Linked Data
ClinVar Variation Id:
156426
ClinVar RCV Id:
RCV000144489
dbSNP Id:
rs587777788
PubMed:
PMID:23596069
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.46087222T>C , CM000680.2:g.46087222T>C | GRCh38 |
| NC_000018.9:g.43667188T>C , CM000680.1:g.43667188T>C | GRCh37 |
| NC_000018.8:g.41921186T>C | NCBI36 |
| NG_041769.1:g.22012A>G | |
| NG_041769.2:g.27012A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398752.11:c.962A>G MANE Select | ENSP00000381736.5:p.Tyr321Cys | |
| ENST00000282050.6:c.962A>G | ENSP00000282050.2:p.Tyr321Cys | |
| ENST00000398752.10:c.962A>G | ENSP00000381736.5:p.Tyr321Cys | |
| ENST00000586523.1:n.1475A>G | ||
| ENST00000586592.5:c.*1025A>G | ENSP00000466275.3:n.*1025A>G | |
| ENST00000590156.5:c.*858A>G | ENSP00000466309.1:n.*858A>G | |
| ENST00000590665.5:c.896A>G | ENSP00000467037.1:p.Tyr299Cys | |
| ENST00000592364.5:c.227-158A>G | ENSP00000468618.1:n.227-158A>G | |
| ENST00000593152.6:c.812A>G | ENSP00000465477.2:p.Tyr271Cys | |
| NM_001001935.2:c.812A>G | NP_001001935.1:p.Tyr271Cys | |
| NM_001001937.1:c.962A>G | NP_001001937.1:p.Tyr321Cys | |
| NM_001257334.1:c.896A>G | NP_001244263.1:p.Tyr299Cys | |
| NM_001257335.1:c.812A>G | NP_001244264.1:p.Tyr271Cys | |
| NM_004046.5:c.962A>G | NP_004037.1:p.Tyr321Cys | |
| XM_011526018.1:c.812A>G | XP_011524320.1:p.Tyr271Cys | |
| XM_017025789.1:c.962A>G | XP_016881278.1:p.Tyr321Cys | |
| NM_004046.6:c.962A>G MANE Select | NP_004037.1:p.Tyr321Cys | |
| NM_001001935.3:c.812A>G | NP_001001935.1:p.Tyr271Cys | |
| NM_001257334.2:c.896A>G | NP_001244263.1:p.Tyr299Cys | |
| NM_001001937.2:c.962A>G | NP_001001937.1:p.Tyr321Cys | |
| NM_001257335.2:c.812A>G | NP_001244264.1:p.Tyr271Cys |