Linked Data
ClinVar Variation Id:
6859
ClinVar RCV Id:
RCV000007262
dbSNP Id:
rs121434438
ExAC:
3:38524764 G / A
gnomAD v2:
3-38524764-G-A
gnomAD v3:
3-38483273-G-A
gnomAD v4:
3-38483273-G-A
PubMed:
PMID:9916847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38483273G>A , CM000665.2:g.38483273G>A | GRCh38 |
| NC_000003.11:g.38524764G>A , CM000665.1:g.38524764G>A | GRCh37 |
| NC_000003.10:g.38499768G>A | NCBI36 |
| NG_011791.1:g.33975G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352511.5:c.1480G>A MANE Select | ENSP00000340361.3:p.Val494Ile | |
| ENST00000352511.4:c.1480G>A | ENSP00000340361.3:p.Val494Ile | |
| ENST00000461232.1:n.5269G>A | ||
| ENST00000465020.5:n.1566G>A | ||
| NM_001106.3:c.1480G>A | NP_001097.2:p.Val494Ile | |
| XM_005265583.2:c.1543G>A | XP_005265640.1:p.Val515Ile | |
| XM_005265583.3:c.1543G>A | XP_005265640.1:p.Val515Ile | |
| XM_017007514.1:c.1522G>A | XP_016863003.1:p.Val508Ile | |
| XM_017007515.2:c.1498G>A | XP_016863004.1:p.Val500Ile | |
| XM_017007516.1:c.1477G>A | XP_016863005.1:p.Val493Ile | |
| NM_001106.4:c.1480G>A MANE Select | NP_001097.2:p.Val494Ile |