Linked Data
ClinVar Variation Id:
937464
ClinVar RCV Id:
RCV002561226
dbSNP Id:
rs778399986
ExAC:
1:241675353 T / C
gnomAD v2:
1-241675353-T-C
gnomAD v4:
1-241512053-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241512053T>C , CM000663.2:g.241512053T>C | GRCh38 |
| NC_000001.10:g.241675353T>C , CM000663.1:g.241675353T>C | GRCh37 |
| NC_000001.9:g.239741976T>C | NCBI36 |
| NG_012338.1:g.12702A>G , LRG_504:g.12702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.972A>G | ||
| ENST00000682162.1:c.498A>G | ENSP00000508203.1:n.498A>G | |
| ENST00000682567.1:n.546A>G | ||
| ENST00000683521.1:c.469A>G | ENSP00000506864.1:p.Ile157Val | |
| ENST00000684483.1:c.469A>G | ENSP00000507894.1:p.Ile157Val | |
| ENST00000366560.4:c.469A>G MANE Select | ENSP00000355518.4:p.Ile157Val | |
| ENST00000366560.3:c.469A>G | ENSP00000355518.3:p.Ile157Val | |
| ENST00000497042.1:n.165A>G | ||
| NM_000143.3:c.469A>G , LRG_504t1:c.469A>G | NP_000134.2:p.Ile157Val | |
| XM_011544132.1:c.241A>G | XP_011542434.1:p.Ile81Val | |
| XM_011544132.2:c.241A>G | XP_011542434.1:p.Ile81Val | |
| NM_000143.4:c.469A>G MANE Select | NP_000134.2:p.Ile157Val |