Linked Data
ClinVar Variation Id:
964188
ClinVar RCV Id:
RCV001238364
dbSNP Id:
rs139731264
ExAC:
3:129249874 G / A
gnomAD v2:
3-129249874-G-A
gnomAD v3:
3-129531031-G-A
gnomAD v4:
3-129531031-G-A
COSMIC:
COSM4113348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531031G>A , CM000665.2:g.129531031G>A | GRCh38 |
| NC_000003.11:g.129249874G>A , CM000665.1:g.129249874G>A | GRCh37 |
| NC_000003.10:g.130732564G>A | NCBI36 |
| NG_009115.1:g.7393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.517G>A MANE Select | ENSP00000296271.3:p.Ala173Thr | |
| ENST00000296271.3:c.517G>A | ENSP00000296271.3:p.Ala173Thr | |
| NM_000539.3:c.517G>A MANE Select | NP_000530.1:p.Ala173Thr |