Linked Data
dbSNP Id:
rs761987601
ExAC:
12:129299518 T / C
gnomAD v2:
12-129299518-T-C
gnomAD v4:
12-128814973-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128814973T>C , CM000674.2:g.128814973T>C | GRCh38 |
| NC_000012.11:g.129299518T>C , CM000674.1:g.129299518T>C | GRCh37 |
| NC_000012.10:g.127865471T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266771.10:c.644A>G MANE Select | ENSP00000266771.5:p.Tyr215Cys | |
| ENST00000266771.9:c.644A>G | ENSP00000266771.5:p.Tyr215Cys | |
| ENST00000366292.6:n.956A>G | ||
| ENST00000376740.8:c.223A>G | ||
| ENST00000376744.8:c.480A>G | ||
| ENST00000535272.1:n.438A>G | ||
| ENST00000539703.1:n.294A>G | ||
| NM_145648.3:c.644A>G | NP_663623.1:p.Tyr215Cys | |
| XM_011537895.1:c.794A>G | XP_011536197.1:p.Tyr265Cys | |
| XR_429081.2:n.667A>G | ||
| XR_944494.1:n.817A>G | ||
| XR_944495.1:n.817A>G | ||
| XR_944496.1:n.817A>G | ||
| XR_944497.1:n.817A>G | ||
| XM_017018791.1:c.794A>G | XP_016874280.1:p.Tyr265Cys | |
| XM_017018792.1:c.794A>G | XP_016874281.1:p.Tyr265Cys | |
| XM_017018793.1:c.644A>G | XP_016874282.1:p.Tyr215Cys | |
| XR_002957287.1:n.667A>G | ||
| XR_944496.2:n.817A>G | ||
| NM_145648.4:c.644A>G MANE Select | NP_663623.1:p.Tyr215Cys |