Linked Data
ClinVar Variation Id:
30316
dbSNP Id:
rs387906857
COSMIC:
COSM1645009
PubMed:
PMID:22426308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40637511T>C , CM000679.2:g.40637511T>C | GRCh38 |
| NC_000017.10:g.38793763T>C , CM000679.1:g.38793763T>C | GRCh37 |
| NC_000017.9:g.36047289T>C | NCBI36 |
| NG_032163.1:g.15341A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.218A>G | ENSP00000466608.2:p.Tyr73Cys | |
| ENST00000348513.12:c.218A>G MANE Select | ENSP00000323967.6:p.Tyr73Cys | |
| ENST00000377808.9:c.113A>G | ENSP00000367039.4:p.Tyr38Cys | |
| ENST00000400122.8:c.8A>G | ENSP00000411607.2:p.Tyr3Cys | |
| ENST00000447024.6:c.218A>G | ENSP00000392958.2:p.Tyr73Cys | |
| ENST00000469334.6:n.315A>G | ||
| ENST00000478349.7:c.170A>G | ENSP00000463216.2:p.Tyr57Cys | |
| ENST00000481231.6:c.*321A>G | ENSP00000462381.2:n.*321A>G | |
| ENST00000493660.6:n.228A>G | ||
| ENST00000577721.6:c.8A>G | ENSP00000462857.2:p.Tyr3Cys | |
| ENST00000578044.6:c.8A>G | ENSP00000464511.1:p.Tyr3Cys | |
| ENST00000578112.6:c.*15A>G | ENSP00000464501.1:n.*15A>G | |
| ENST00000578995.6:n.221A>G | ||
| ENST00000580419.6:c.113A>G | ENSP00000462475.2:p.Tyr38Cys | |
| ENST00000580654.6:c.164A>G | ENSP00000464061.2:p.Tyr55Cys | |
| ENST00000582955.6:c.218A>G | ENSP00000463282.2:p.Tyr73Cys | |
| ENST00000642459.1:c.8A>G | ENSP00000496546.1:p.Tyr3Cys | |
| ENST00000642576.1:n.193A>G | ||
| ENST00000643030.1:n.174A>G | ||
| ENST00000643255.1:c.*2282A>G | ENSP00000493957.1:n.*2282A>G | |
| ENST00000643318.1:c.8A>G | ENSP00000494771.1:p.Tyr3Cys | |
| ENST00000643683.1:c.218A>G | ENSP00000496094.1:p.Tyr73Cys | |
| ENST00000644257.1:n.180A>G | ||
| ENST00000644523.1:n.264A>G | ||
| ENST00000644527.1:c.8A>G | ENSP00000493974.1:p.Tyr3Cys | |
| ENST00000644701.1:c.218A>G | ENSP00000496097.1:p.Tyr73Cys | |
| ENST00000644909.1:c.8A>G | ENSP00000493649.1:p.Tyr3Cys | |
| ENST00000645104.1:c.113A>G | ENSP00000496311.1:p.Tyr38Cys | |
| ENST00000645152.1:n.214A>G | ||
| ENST00000645155.1:n.319A>G | ||
| ENST00000645227.1:c.8A>G | ENSP00000495021.1:p.Tyr3Cys | |
| ENST00000645478.1:c.120A>G | ||
| ENST00000645663.1:n.200A>G | ||
| ENST00000646242.1:n.346A>G | ||
| ENST00000646283.1:c.8A>G | ENSP00000494537.1:p.Tyr3Cys | |
| ENST00000646401.1:n.337A>G | ||
| ENST00000646448.1:n.324A>G | ||
| ENST00000646482.1:c.218A>G | ENSP00000496661.1:p.Tyr73Cys | |
| ENST00000646856.1:c.*15A>G | ENSP00000494505.1:n.*15A>G | |
| ENST00000647221.1:n.287A>G | ||
| ENST00000647294.1:c.*148A>G | ENSP00000494815.1:n.*148A>G | |
| ENST00000647347.1:n.213A>G | ||
| ENST00000647508.1:c.113A>G | ENSP00000496445.1:p.Tyr38Cys | |
| ENST00000647515.1:c.8A>G | ENSP00000495857.1:p.Tyr3Cys | |
| ENST00000348513.10:c.218A>G | ENSP00000323967.6:p.Tyr73Cys | |
| ENST00000377808.8:c.113A>G | ENSP00000367039.4:p.Tyr38Cys | |
| ENST00000400122.7:c.8A>G | ENSP00000411607.2:p.Tyr3Cys | |
| ENST00000431889.6:c.164A>G | ENSP00000445370.1:p.Tyr55Cys | |
| ENST00000469334.5:n.304A>G | ||
| ENST00000476049.1:c.*599-998A>G | ENSP00000463483.1:n.*599-998A>G | |
| ENST00000478349.6:c.170A>G | ENSP00000463216.1:p.Tyr57Cys | |
| ENST00000481231.5:c.*148A>G | ENSP00000462381.1:n.*148A>G | |
| ENST00000493660.5:n.199A>G | ||
| ENST00000577721.5:c.8A>G | ENSP00000462857.1:p.Tyr3Cys | |
| ENST00000578044.5:c.8A>G | ENSP00000464511.1:p.Tyr3Cys | |
| ENST00000578112.5:c.*15A>G | ENSP00000464501.1:n.*15A>G | |
| ENST00000578995.5:n.221A>G | ||
| ENST00000580419.5:c.113A>G | ENSP00000462475.1:p.Tyr38Cys | |
| ENST00000580654.5:c.164A>G | ENSP00000464061.1:p.Tyr55Cys | |
| ENST00000582955.5:c.218A>G | ENSP00000463282.1:p.Tyr73Cys | |
| NM_003079.4:c.218A>G | NP_003070.3:p.Tyr73Cys | |
| NM_003079.5:c.218A>G MANE Select | NP_003070.3:p.Tyr73Cys |