Linked Data
ClinVar Variation Id:
1503722
ClinVar RCV Id:
RCV002025656
dbSNP Id:
rs778626065
ExAC:
3:129249766 G / A
gnomAD v2:
3-129249766-G-A
gnomAD v3:
3-129530923-G-A
gnomAD v4:
3-129530923-G-A
COSMIC:
COSM3060233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530923G>A , CM000665.2:g.129530923G>A | GRCh38 |
| NC_000003.11:g.129249766G>A , CM000665.1:g.129249766G>A | GRCh37 |
| NC_000003.10:g.130732456G>A | NCBI36 |
| NG_009115.1:g.7285G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.409G>A MANE Select | ENSP00000296271.3:p.Val137Met | |
| ENST00000296271.3:c.409G>A | ENSP00000296271.3:p.Val137Met | |
| NM_000539.3:c.409G>A MANE Select | NP_000530.1:p.Val137Met |