Linked Data
ClinVar Variation Id:
12953
dbSNP Id:
rs121918608
ExAC:
20:32880181 T / C
gnomAD v2:
20-32880181-T-C
gnomAD v3:
20-34292375-T-C
gnomAD v4:
20-34292375-T-C
COSMIC:
COSM2757996
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34292375T>C , CM000682.2:g.34292375T>C | GRCh38 |
| NC_000020.10:g.32880181T>C , CM000682.1:g.32880181T>C | GRCh37 |
| NC_000020.9:g.32343842T>C | NCBI36 |
| NG_012630.1:g.24428A>G | |
| NG_012630.2:g.24428A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217426.7:c.428A>G MANE Select | ENSP00000217426.2:p.Tyr143Cys | |
| ENST00000217426.6:c.428A>G | ENSP00000217426.2:p.Tyr143Cys | |
| ENST00000468908.1:n.591A>G | ||
| ENST00000480653.5:n.475A>G | ||
| ENST00000538132.1:c.344A>G | ENSP00000442820.1:p.Tyr115Cys | |
| NM_000687.2:c.428A>G | NP_000678.1:p.Tyr143Cys | |
| NM_001161766.1:c.344A>G | NP_001155238.1:p.Tyr115Cys | |
| XM_005260316.3:c.344A>G | XP_005260373.1:p.Tyr115Cys | |
| XM_005260317.1:c.344A>G | XP_005260374.1:p.Tyr115Cys | |
| XM_011528656.1:c.344A>G | XP_011526958.1:p.Tyr115Cys | |
| XM_011528657.1:c.344A>G | XP_011526959.1:p.Tyr115Cys | |
| XM_011528658.1:c.344A>G | XP_011526960.1:p.Tyr115Cys | |
| XM_011528659.1:c.344A>G | XP_011526961.1:p.Tyr115Cys | |
| XM_011528660.1:c.344A>G | XP_011526962.1:p.Tyr115Cys | |
| NM_000687.3:c.428A>G | NP_000678.1:p.Tyr143Cys | |
| NM_001322084.1:c.344A>G | NP_001309013.1:p.Tyr115Cys | |
| NM_001322085.1:c.344A>G | NP_001309014.1:p.Tyr115Cys | |
| NM_001322086.1:c.434A>G | NP_001309015.1:p.Tyr145Cys | |
| NM_001362750.1:c.428A>G | NP_001349679.1:p.Tyr143Cys | |
| XM_005260317.2:c.344A>G | XP_005260374.1:p.Tyr115Cys | |
| XM_011528656.3:c.434A>G | XP_011526958.2:p.Tyr145Cys | |
| XM_011528657.2:c.434A>G | XP_011526959.2:p.Tyr145Cys | |
| XM_011528658.3:c.434A>G | XP_011526960.2:p.Tyr145Cys | |
| XM_017027709.2:c.428A>G | XP_016883198.1:p.Tyr143Cys | |
| XM_017027710.2:c.50A>G | XP_016883199.1:p.Tyr17Cys | |
| NM_000687.4:c.428A>G MANE Select | NP_000678.1:p.Tyr143Cys | |
| NM_001322084.2:c.344A>G | NP_001309013.1:p.Tyr115Cys | |
| NM_001322085.2:c.344A>G | NP_001309014.1:p.Tyr115Cys | |
| NM_001322086.2:c.434A>G | NP_001309015.1:p.Tyr145Cys | |
| NM_001362750.2:c.428A>G | NP_001349679.1:p.Tyr143Cys | |
| NM_001161766.2:c.344A>G | NP_001155238.1:p.Tyr115Cys |