Linked Data
ClinVar Variation Id:
7828
dbSNP Id:
rs121909228
COSMIC:
COSM5326
ERepo:
CA000569/MONDO:0017623/003
PubMed:
PMID:9832032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957984G>T , CM000672.2:g.87957984G>T | GRCh38 |
| NC_000010.10:g.89717741G>T , CM000672.1:g.89717741G>T | GRCh37 |
| NC_000010.9:g.89707721G>T | NCBI36 |
| NG_007466.2:g.99546G>T , LRG_311:g.99546G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.766G>T | ENSP00000514759.2:p.Glu256Ter | |
| ENST00000710265.1:c.766G>T | ENSP00000518161.1:p.Glu256Ter | |
| ENST00000472832.3:c.766G>T | ENSP00000483066.2:p.Glu256Ter | |
| ENST00000688158.2:n.1501G>T | ||
| ENST00000688922.2:c.*596G>T | ENSP00000508742.2:n.*596G>T | |
| ENST00000700021.1:c.721G>T | ENSP00000514757.1:p.Glu241Ter | |
| ENST00000700022.1:c.*105G>T | ENSP00000514758.1:n.*105G>T | |
| ENST00000700023.1:n.1924G>T | ||
| ENST00000700024.1:n.2158G>T | ||
| ENST00000700025.1:n.1535G>T | ||
| ENST00000700026.1:n.403G>T | ||
| ENST00000700029.1:c.600G>T | ||
| ENST00000706954.1:c.766G>T | ENSP00000516674.1:p.Glu256Ter | |
| ENST00000706955.1:c.*801G>T | ENSP00000516675.1:n.*801G>T | |
| ENST00000686459.1:c.*352G>T | ENSP00000508909.1:n.*352G>T | |
| ENST00000688158.1:c.*877G>T | ENSP00000509254.1:n.*877G>T | |
| ENST00000688308.1:c.766G>T | ENSP00000508752.1:p.Glu256Ter | |
| ENST00000688922.1:c.687G>T | ||
| ENST00000693560.1:c.1285G>T | ENSP00000509861.1:p.Glu429Ter | |
| ENST00000371953.8:c.766G>T MANE Select | ENSP00000361021.3:p.Glu256Ter | |
| ENST00000371953.7:c.766G>T | ENSP00000361021.3:p.Glu256Ter | |
| ENST00000472832.2:c.193G>T | ENSP00000483066.1:p.Glu65Ter | |
| NM_000314.5:c.766G>T | NP_000305.3:p.Glu256Ter | |
| NM_000314.6:c.766G>T | NP_000305.3:p.Glu256Ter | |
| NM_001304717.2:c.1285G>T | NP_001291646.2:p.Glu429Ter | |
| NM_001304718.1:c.175G>T | NP_001291647.1:p.Glu59Ter | |
| XM_006717926.2:c.721G>T | XP_006717989.1:p.Glu241Ter | |
| XM_011539981.1:c.766G>T | XP_011538283.1:p.Glu256Ter | |
| XM_011539982.1:c.670G>T | XP_011538284.1:p.Glu224Ter | |
| XR_945791.1:n.1336G>T | ||
| NM_000314.7:c.766G>T | NP_000305.3:p.Glu256Ter | |
| NM_001304717.5:c.1285G>T | NP_001291646.4:p.Glu429Ter | |
| NM_001304718.2:c.175G>T | NP_001291647.1:p.Glu59Ter | |
| NM_000314.8:c.766G>T MANE Select | NP_000305.3:p.Glu256Ter |