Linked Data
ClinVar Variation Id:
56238
ClinVar RCV Id:
RCV000049650
dbSNP Id:
rs386833689
PubMed:
PMID:12948742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49419282T>C , CM000665.2:g.49419282T>C | GRCh38 |
| NC_000003.11:g.49456715T>C , CM000665.1:g.49456715T>C | GRCh37 |
| NC_000003.10:g.49431719T>C | NCBI36 |
| NG_015986.1:g.8397A>G , LRG_537:g.8397A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.674A>G MANE Select | ENSP00000273588.3:p.Tyr225Cys | |
| ENST00000395338.7:c.674A>G | ENSP00000378747.2:p.Tyr225Cys | |
| ENST00000399379.7:c.406A>G | ENSP00000399943.2:n.406A>G | |
| ENST00000427987.6:c.530A>G | ENSP00000403821.2:p.Tyr177Cys | |
| ENST00000430521.2:c.*476A>G | ENSP00000388068.2:n.*476A>G | |
| ENST00000465925.6:n.2568A>G | ||
| ENST00000473163.2:n.3182A>G | ||
| ENST00000476127.6:n.903A>G | ||
| ENST00000476226.6:n.1095A>G | ||
| ENST00000476828.2:n.1373A>G | ||
| ENST00000478594.6:n.1101A>G | ||
| ENST00000480957.6:n.2567A>G | ||
| ENST00000487589.6:n.587A>G | ||
| ENST00000491800.3:n.3191A>G | ||
| ENST00000493046.6:n.2749+428A>G | ||
| ENST00000538581.6:c.530A>G | ENSP00000443200.2:p.Tyr177Cys | |
| ENST00000635772.1:n.1404A>G | ||
| ENST00000635798.1:n.369A>G | ||
| ENST00000635808.1:c.593A>G | ENSP00000489620.1:p.Tyr198Cys | |
| ENST00000635889.1:n.1105A>G | ||
| ENST00000635907.1:n.569A>G | ||
| ENST00000635936.1:n.965-131A>G | ||
| ENST00000636023.1:c.551-131A>G | ENSP00000489969.1:n.551-131A>G | |
| ENST00000636070.1:c.*454A>G | ENSP00000490160.1:n.*454A>G | |
| ENST00000636148.1:n.2619A>G | ||
| ENST00000636166.1:c.911A>G | ENSP00000490106.1:p.Tyr304Cys | |
| ENST00000636199.1:c.259-131A>G | ENSP00000490871.1:n.259-131A>G | |
| ENST00000636204.1:n.1956A>G | ||
| ENST00000636461.1:c.4208A>G | ||
| ENST00000636522.1:c.506A>G | ENSP00000489758.1:p.Tyr169Cys | |
| ENST00000636587.1:n.783-131A>G | ||
| ENST00000636597.1:c.550+428A>G | ENSP00000490251.1:n.550+428A>G | |
| ENST00000636725.1:n.1390A>G | ||
| ENST00000636803.1:n.1016A>G | ||
| ENST00000636865.1:c.518A>G | ENSP00000490601.1:p.Tyr173Cys | |
| ENST00000636871.1:n.1039A>G | ||
| ENST00000636978.1:n.678A>G | ||
| ENST00000636991.1:n.1119A>G | ||
| ENST00000637059.1:c.149-131A>G | ENSP00000490153.1:n.149-131A>G | |
| ENST00000637088.1:n.5486A>G | ||
| ENST00000637114.1:n.666A>G | ||
| ENST00000637268.1:n.1405A>G | ||
| ENST00000637291.1:n.1408A>G | ||
| ENST00000637442.1:n.2895A>G | ||
| ENST00000637455.1:c.485A>G | ENSP00000489628.1:p.Tyr162Cys | |
| ENST00000637457.1:n.1427A>G | ||
| ENST00000637682.1:c.674A>G | ENSP00000489856.1:p.Tyr225Cys | |
| ENST00000637684.1:n.776A>G | ||
| ENST00000637821.1:c.*876A>G | ENSP00000490482.1:n.*876A>G | |
| ENST00000637914.1:n.2568A>G | ||
| ENST00000637982.1:n.1088A>G | ||
| ENST00000637994.1:n.1106A>G | ||
| ENST00000638014.1:c.3455A>G | ||
| ENST00000638063.1:c.593A>G | ENSP00000489760.1:p.Tyr198Cys | |
| ENST00000638079.1:c.*1186A>G | ENSP00000490120.1:n.*1186A>G | |
| ENST00000638092.1:n.1086A>G | ||
| ENST00000638115.1:c.*2435A>G | ENSP00000490296.1:n.*2435A>G | |
| ENST00000273588.7:c.674A>G | ENSP00000273588.3:p.Tyr225Cys | |
| ENST00000395338.6:c.674A>G | ENSP00000378747.2:p.Tyr225Cys | |
| ENST00000399379.6:c.*454A>G | ENSP00000399943.1:n.*454A>G | |
| ENST00000427987.5:c.666A>G | ||
| ENST00000430521.1:c.506A>G | ENSP00000388068.1:p.Tyr169Cys | |
| ENST00000458307.6:c.542A>G | ENSP00000415619.2:p.Tyr181Cys | |
| ENST00000465925.5:n.1864A>G | ||
| ENST00000476127.5:n.433A>G | ||
| ENST00000476226.5:n.739A>G | ||
| ENST00000487589.5:n.776A>G | ||
| ENST00000491800.2:n.124A>G | ||
| ENST00000495436.5:n.632A>G | ||
| ENST00000538581.5:c.506A>G | ENSP00000443200.1:p.Tyr169Cys | |
| NM_000481.3:c.674A>G , LRG_537t1:c.674A>G | NP_000472.2:p.Tyr225Cys | |
| NM_001164710.1:c.542A>G | NP_001158182.1:p.Tyr181Cys | |
| NM_001164711.1:c.506A>G | NP_001158183.1:p.Tyr169Cys | |
| NM_001164712.1:c.674A>G | NP_001158184.1:p.Tyr225Cys | |
| NR_028435.1:n.888A>G | ||
| NM_000481.4:c.674A>G MANE Select | NP_000472.2:p.Tyr225Cys | |
| NM_001164710.2:c.542A>G | NP_001158182.1:p.Tyr181Cys | |
| NM_001164711.2:c.506A>G | NP_001158183.1:p.Tyr169Cys | |
| NM_001164712.2:c.674A>G | NP_001158184.1:p.Tyr225Cys | |
| NR_028435.2:n.683A>G |