ClinVar

NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)

Gene:

SLC12A3:solute carrier family 12 member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56887928 (on Assembly GRCh38)
• Chr16: 56921840 (on Assembly GRCh37)

Preferred name:

NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)

HGVS:

• NC_000016.10:g.56887928G>A
• NG_009386.2:g.27722G>A
• NM_000339.3:c.2182G>A
• NM_001126107.2:c.2179G>A
• NM_001126108.2:c.2182G>AMANE SELECT
• NP_000330.3:p.Ala728Thr
• NP_001119579.2:p.Ala727Thr
• NP_001119580.2:p.Ala728Thr
• NC_000016.9:g.56921840G>A
• NG_009386.1:g.27722G>A
• NM_000339.2:c.2182G>A
• NM_000339.3:c.2182G>A

This HGVS expression did not pass validation

Protein change:

A727T

Links:

dbSNP: rs36049418

NCBI 1000 Genomes Browser:

rs36049418

Molecular consequence:

• NM_000339.3:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126107.2:c.2179G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001126108.2:c.2182G>A - missense variant - [Sequence Ontology: SO:0001583]