ClinVar

NM_002074.5(GNB1):c.388G>A (p.Glu130Lys)

Gene:

GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

• Chr1: 1804461 (on Assembly GRCh38)
• Chr1: 1735900 (on Assembly GRCh37)

Preferred name:

NM_002074.5(GNB1):c.388G>A (p.Glu130Lys)

HGVS:

• NC_000001.11:g.1804461C>T
• NG_047052.1:g.91657G>A
• NM_001282538.2:c.88G>A
• NM_001282539.2:c.388G>A
• NM_002074.5:c.388G>AMANE SELECT
• NP_001269467.1:p.Glu30Lys
• NP_001269468.1:p.Glu130Lys
• NP_002065.1:p.Glu130Lys
• NC_000001.10:g.1735900C>T
• NM_002074.4:c.388G>A

This HGVS expression did not pass validation

Protein change:

E130K

Links:

dbSNP: rs1553194155

NCBI 1000 Genomes Browser:

rs1553194155

Molecular consequence:

• NM_001282538.2:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282539.2:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002074.5:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]