Linked Data
ClinVar Variation Id:
292991
dbSNP Id:
rs369125471
ExAC:
1:158618316 C / T
gnomAD v2:
1-158618316-C-T
gnomAD v3:
1-158648526-C-T
gnomAD v4:
1-158648526-C-T
COSMIC:
COSM673771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158648526C>T , CM000663.2:g.158648526C>T | GRCh38 |
| NC_000001.10:g.158618316C>T , CM000663.1:g.158618316C>T | GRCh37 |
| NC_000001.9:g.156884940C>T | NCBI36 |
| NG_011474.1:g.43191G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.3697G>A MANE Select | ENSP00000495214.1:p.Val1233Ile | |
| ENST00000368147.8:c.3697G>A | ENSP00000357129.4:p.Val1233Ile | |
| ENST00000614909.4:c.3697G>A | ENSP00000482595.1:p.Val1233Ile | |
| NM_003126.2:c.3697G>A | NP_003117.2:p.Val1233Ile | |
| XM_011509916.1:c.3697G>A | XP_011508218.1:p.Val1233Ile | |
| XM_011509917.1:c.3697G>A | XP_011508219.1:p.Val1233Ile | |
| XM_011509918.1:c.3697G>A | XP_011508220.1:p.Val1233Ile | |
| XM_011509919.1:c.3697G>A | XP_011508221.1:p.Val1233Ile | |
| XR_921911.1:n.3810G>A | ||
| XR_921912.1:n.3815G>A | ||
| NM_003126.3:c.3697G>A | NP_003117.2:p.Val1233Ile | |
| XM_011509916.2:c.3697G>A | XP_011508218.1:p.Val1233Ile | |
| XM_011509917.3:c.3697G>A | XP_011508219.1:p.Val1233Ile | |
| XM_011509918.3:c.3697G>A | XP_011508220.1:p.Val1233Ile | |
| XM_011509919.3:c.3697G>A | XP_011508221.1:p.Val1233Ile | |
| XR_921911.3:n.3823G>A | ||
| XR_921912.2:n.3825G>A | ||
| NM_003126.4:c.3697G>A MANE Select | NP_003117.2:p.Val1233Ile |