Linked Data
ClinVar Variation Id:
1469587
ClinVar RCV Id:
RCV001973055
dbSNP Id:
rs6130037
ExAC:
20:35526283 T / C
gnomAD v2:
20-35526283-T-C
gnomAD v3:
20-36897880-T-C
gnomAD v4:
20-36897880-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36897880T>C , CM000682.2:g.36897880T>C | GRCh38 |
| NC_000020.10:g.35526283T>C , CM000682.1:g.35526283T>C | GRCh37 |
| NC_000020.9:g.34959697T>C | NCBI36 |
| NG_017059.1:g.58964A>G , LRG_281:g.58964A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644114.2:c.1455A>G | ENSP00000494354.2:n.1455A>G | |
| ENST00000644250.2:c.1583A>G | ENSP00000493810.2:p.Tyr528Cys | |
| ENST00000682773.1:c.1688A>G | ENSP00000507178.1:p.Tyr563Cys | |
| ENST00000683720.1:c.1726A>G | ENSP00000508219.1:n.1726A>G | |
| ENST00000683766.1:c.1688A>G | ENSP00000506877.1:p.Tyr563Cys | |
| ENST00000262878.5:c.1583A>G | ENSP00000262878.5:p.Tyr528Cys | |
| ENST00000465985.2:c.204A>G | ||
| ENST00000642186.1:c.*1992A>G | ENSP00000494436.1:n.*1992A>G | |
| ENST00000642246.1:c.*1367A>G | ENSP00000494979.1:n.*1367A>G | |
| ENST00000643825.1:c.311A>G | ENSP00000495448.1:p.Tyr104Cys | |
| ENST00000643918.1:c.1688A>G | ENSP00000493928.1:p.Tyr563Cys | |
| ENST00000644114.1:c.1381A>G | ||
| ENST00000645033.1:c.*865A>G | ENSP00000494520.1:n.*865A>G | |
| ENST00000646066.1:c.1478A>G | ENSP00000495432.1:p.Tyr493Cys | |
| ENST00000646673.2:c.1688A>G MANE Select | ENSP00000493536.2:p.Tyr563Cys | |
| ENST00000646869.1:c.1688A>G | ENSP00000495667.1:p.Tyr563Cys | |
| ENST00000646904.1:c.*894A>G | ENSP00000494823.1:n.*894A>G | |
| ENST00000647095.1:n.2886A>G | ||
| ENST00000647163.1:c.*865A>G | ENSP00000494313.1:n.*865A>G | |
| ENST00000647459.1:n.2737A>G | ||
| ENST00000262878.4:c.1688A>G | ENSP00000262878.4:p.Tyr563Cys | |
| ENST00000465985.1:n.204A>G | ||
| NM_015474.3:c.1688A>G , LRG_281t1:c.1688A>G | NP_056289.2:p.Tyr563Cys | |
| XM_005260384.2:c.1583A>G | XP_005260441.1:p.Tyr528Cys | |
| XM_011528761.1:c.1688A>G | XP_011527063.1:p.Tyr563Cys | |
| NM_001363729.1:c.1583A>G | NP_001350658.1:p.Tyr528Cys | |
| NM_001363733.1:c.1688A>G | NP_001350662.1:p.Tyr563Cys | |
| NM_001363729.2:c.1583A>G | NP_001350658.1:p.Tyr528Cys | |
| NM_001363733.2:c.1688A>G | NP_001350662.1:p.Tyr563Cys | |
| NM_015474.4:c.1688A>G MANE Select | NP_056289.2:p.Tyr563Cys |