ClinVar

NM_000516.7(GNAS):c.384G>A (p.Val128=)

Gene:

GNAS:GNAS complex locus [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58903743 (on Assembly GRCh38)
• Chr20: 57478798 (on Assembly GRCh37)

Preferred name:

NM_000516.7(GNAS):c.384G>A (p.Val128=)

HGVS:

• NC_000020.11:g.58903743G>A
• NG_016194.2:g.69004G>A
• NM_000516.7:c.384G>AMANE SELECT
• NM_001077488.5:c.387G>A
• NM_001077489.4:c.339G>A
• NM_001077490.3:c.*245G>A
• NM_001309840.2:c.207G>A
• NM_001309861.2:c.207G>A
• NM_016592.5:c.*290G>A
• NM_080425.4:c.2313G>A
• NM_080426.4:c.342G>A
• NP_000507.1:p.Val128=
• NP_001070956.1:p.Val129=
• NP_001070957.1:p.Val113=
• NP_001296769.1:p.Val69=
• NP_001296790.1:p.Val69=
• NP_536350.2:p.Val771=
• NP_536351.1:p.Val114=
• NC_000020.10:g.57478798G>A
• NC_000020.10:g.57478798G>A
• NM_000516.5:c.384G>A
• NM_000516.6:c.384G>A
• NM_080425.3:c.2313G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs3730166

NCBI 1000 Genomes Browser:

rs3730166

Molecular consequence:

• NM_001077490.3:c.*245G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_016592.5:c.*290G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000516.7:c.384G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001077488.5:c.387G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001077489.4:c.339G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001309840.2:c.207G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001309861.2:c.207G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080425.4:c.2313G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080426.4:c.342G>A - synonymous variant - [Sequence Ontology: SO:0001819]