Linked Data
ClinVar Variation Id:
217929
dbSNP Id:
rs387906230
COSMIC:
COSM33533
PubMed:
PMID:19029688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112827199T>A , CM000667.2:g.112827199T>A | GRCh38 |
| NC_000005.9:g.112162896T>A , CM000667.1:g.112162896T>A | GRCh37 |
| NC_000005.8:g.112190795T>A | NCBI36 |
| NG_008481.4:g.139679T>A , LRG_130:g.139679T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1408+5208T>A | ENSP00000484935.2:n.1408+5208T>A | |
| ENST00000504915.3:c.1554T>A | ENSP00000473355.2:p.Tyr518Ter | |
| ENST00000505084.2:n.1556T>A | ||
| ENST00000505350.2:c.*1506T>A | ENSP00000481752.1:n.*1506T>A | |
| ENST00000507379.6:c.1446T>A | ENSP00000423224.2:p.Tyr482Ter | |
| ENST00000509732.6:c.1500T>A | ENSP00000426541.2:p.Tyr500Ter | |
| ENST00000512211.7:c.1500T>A | ENSP00000423828.3:p.Tyr500Ter | |
| ENST00000257430.9:c.1500T>A MANE Select | ENSP00000257430.4:p.Tyr500Ter | |
| ENST00000257430.8:c.1500T>A | ENSP00000257430.4:p.Tyr500Ter | |
| ENST00000502371.2:c.96+5208T>A | ||
| ENST00000504915.2:c.189T>A | ENSP00000473355.1:p.Tyr63Ter | |
| ENST00000507379.5:c.1446T>A | ENSP00000423224.1:p.Tyr482Ter | |
| ENST00000508376.6:c.1500T>A | ENSP00000427089.2:p.Tyr500Ter | |
| ENST00000508624.5:c.*822T>A | ENSP00000424265.1:n.*822T>A | |
| ENST00000512211.6:c.1500T>A | ENSP00000423828.2:p.Tyr500Ter | |
| NM_000038.5:c.1500T>A | NP_000029.2:p.Tyr500Ter | |
| NM_001127510.2:c.1500T>A | NP_001120982.1:p.Tyr500Ter | |
| NM_001127511.2:c.1446T>A | NP_001120983.2:p.Tyr482Ter | |
| NM_001354895.1:c.1500T>A | NP_001341824.1:p.Tyr500Ter | |
| NM_001354896.1:c.1554T>A | NP_001341825.1:p.Tyr518Ter | |
| NM_001354897.1:c.1530T>A | NP_001341826.1:p.Tyr510Ter | |
| NM_001354898.1:c.1425T>A | NP_001341827.1:p.Tyr475Ter | |
| NM_001354899.1:c.1416T>A | NP_001341828.1:p.Tyr472Ter | |
| NM_001354900.1:c.1377T>A | NP_001341829.1:p.Tyr459Ter | |
| NM_001354901.1:c.1323T>A | NP_001341830.1:p.Tyr441Ter | |
| NM_001354902.1:c.1227T>A | NP_001341831.1:p.Tyr409Ter | |
| NM_001354903.1:c.1197T>A | NP_001341832.1:p.Tyr399Ter | |
| NM_001354904.1:c.1122T>A | NP_001341833.1:p.Tyr374Ter | |
| NM_001354905.1:c.1020T>A | NP_001341834.1:p.Tyr340Ter | |
| NM_001354906.1:c.651T>A | NP_001341835.1:p.Tyr217Ter | |
| NM_000038.6:c.1500T>A MANE Select | NP_000029.2:p.Tyr500Ter | |
| NM_001127510.3:c.1500T>A | NP_001120982.1:p.Tyr500Ter | |
| NM_001127511.3:c.1446T>A | NP_001120983.2:p.Tyr482Ter | |
| NM_001354895.2:c.1500T>A | NP_001341824.1:p.Tyr500Ter | |
| NM_001354896.2:c.1554T>A | NP_001341825.1:p.Tyr518Ter | |
| NM_001354897.2:c.1530T>A | NP_001341826.1:p.Tyr510Ter | |
| NM_001354898.2:c.1425T>A | NP_001341827.1:p.Tyr475Ter | |
| NM_001354899.2:c.1416T>A | NP_001341828.1:p.Tyr472Ter | |
| NM_001354900.2:c.1377T>A | NP_001341829.1:p.Tyr459Ter | |
| NM_001354901.2:c.1323T>A | NP_001341830.1:p.Tyr441Ter | |
| NM_001354902.2:c.1227T>A | NP_001341831.1:p.Tyr409Ter | |
| NM_001354903.2:c.1197T>A | NP_001341832.1:p.Tyr399Ter | |
| NM_001354904.2:c.1122T>A | NP_001341833.1:p.Tyr374Ter | |
| NM_001354905.2:c.1020T>A | NP_001341834.1:p.Tyr340Ter | |
| NM_001354906.2:c.651T>A | NP_001341835.1:p.Tyr217Ter |