Linked Data
ClinVar Variation Id:
12296
dbSNP Id:
rs28934876
ExAC:
11:118971106 T / C
gnomAD v2:
11-118971106-T-C
gnomAD v3:
11-119100396-T-C
gnomAD v4:
11-119100396-T-C
PubMed:
PMID:12872255
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119100396T>C , CM000673.2:g.119100396T>C | GRCh38 |
| NC_000011.9:g.118971106T>C , CM000673.1:g.118971106T>C | GRCh37 |
| NC_000011.8:g.118476316T>C | NCBI36 |
| NG_008918.1:g.6680A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000445653.6:n.685A>G | ||
| ENST00000530052.2:n.1251A>G | ||
| ENST00000682191.1:n.711A>G | ||
| ENST00000682192.1:n.711A>G | ||
| ENST00000682232.1:c.*214A>G | ENSP00000507302.1:n.*214A>G | |
| ENST00000682326.1:c.509A>G | ENSP00000508129.1:p.Tyr170Cys | |
| ENST00000682404.1:n.1251A>G | ||
| ENST00000682517.1:n.1251A>G | ||
| ENST00000682652.1:n.1480A>G | ||
| ENST00000682665.1:n.906A>G | ||
| ENST00000682691.1:n.906A>G | ||
| ENST00000682791.1:c.422A>G | ENSP00000507312.1:p.Tyr141Cys | |
| ENST00000682811.1:c.509A>G | ENSP00000508196.1:p.Tyr170Cys | |
| ENST00000682883.1:n.812A>G | ||
| ENST00000682946.1:c.509A>G | ENSP00000506856.1:p.Tyr170Cys | |
| ENST00000683143.1:c.*214A>G | ENSP00000507168.1:n.*214A>G | |
| ENST00000683373.1:n.711A>G | ||
| ENST00000683558.1:n.711A>G | ||
| ENST00000683567.1:n.736A>G | ||
| ENST00000683955.1:n.906A>G | ||
| ENST00000684142.1:c.*184A>G | ENSP00000508008.1:n.*184A>G | |
| ENST00000684252.1:n.906A>G | ||
| ENST00000684255.1:c.*214A>G | ENSP00000507398.1:n.*214A>G | |
| ENST00000684315.1:n.1242A>G | ||
| ENST00000684345.1:c.*184A>G | ENSP00000507163.1:n.*184A>G | |
| ENST00000684499.1:c.*614A>G | ENSP00000506800.1:n.*614A>G | |
| ENST00000684682.1:c.174A>G | ENSP00000507326.1:p.Leu58= | |
| ENST00000354202.9:c.509A>G MANE Select | ENSP00000346142.4:p.Tyr170Cys | |
| ENST00000636404.1:c.13A>G | ||
| ENST00000638850.1:c.13A>G | ||
| ENST00000639704.1:c.416A>G | ENSP00000491336.1:p.Tyr139Cys | |
| ENST00000640102.1:c.*162A>G | ENSP00000492027.1:n.*162A>G | |
| ENST00000640747.1:c.*184A>G | ENSP00000492730.1:n.*184A>G | |
| ENST00000354202.8:c.509A>G | ENSP00000346142.4:p.Tyr170Cys | |
| ENST00000392834.7:c.*214A>G | ENSP00000376579.3:n.*214A>G | |
| ENST00000409993.6:c.509A>G | ENSP00000386597.2:p.Tyr170Cys | |
| ENST00000414373.5:c.*255A>G | ENSP00000402019.1:n.*255A>G | |
| ENST00000442480.1:c.359A>G | ENSP00000406591.1:p.Tyr120Cys | |
| ENST00000461999.1:n.14A>G | ||
| ENST00000481084.5:n.1138A>G | ||
| ENST00000525456.5:n.512A>G | ||
| ENST00000530052.1:n.407A>G | ||
| ENST00000533687.1:n.521A>G | ||
| NM_001382.3:c.509A>G | NP_001373.2:p.Tyr170Cys | |
| XM_005271422.2:c.509A>G | XP_005271479.1:p.Tyr170Cys | |
| XM_011542648.1:c.188A>G | XP_011540950.1:p.Tyr63Cys | |
| XR_947801.1:n.945A>G | ||
| XM_005271422.3:c.509A>G | XP_005271479.1:p.Tyr170Cys | |
| XM_011542648.2:c.188A>G | XP_011540950.1:p.Tyr63Cys | |
| XM_017017293.2:c.188A>G | XP_016872782.1:p.Tyr63Cys | |
| XM_017017294.2:c.509A>G | XP_016872783.1:p.Tyr170Cys | |
| XM_017017295.1:c.-8A>G | XP_016872784.1:n.-8A>G | |
| XR_001747785.2:n.732A>G | ||
| XR_947801.2:n.732A>G | ||
| NM_001382.4:c.509A>G MANE Select | NP_001373.2:p.Tyr170Cys |