Linked Data
ClinVar Variation Id:
7814
dbSNP Id:
rs121909220
COSMIC:
COSM921104
PubMed:
PMID:9140396
ERepo:
CA000467/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87933228G>T , CM000672.2:g.87933228G>T | GRCh38 |
| NC_000010.10:g.89692985G>T , CM000672.1:g.89692985G>T | GRCh37 |
| NC_000010.9:g.89682965G>T | NCBI36 |
| NG_007466.2:g.74790G>T , LRG_311:g.74790G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.469G>T | ENSP00000514759.2:p.Glu157Ter | |
| ENST00000710265.1:c.469G>T | ENSP00000518161.1:p.Glu157Ter | |
| ENST00000472832.3:c.469G>T | ENSP00000483066.2:p.Glu157Ter | |
| ENST00000688158.2:n.1204G>T | ||
| ENST00000688922.2:c.*299G>T | ENSP00000508742.2:n.*299G>T | |
| ENST00000700021.1:c.424G>T | ENSP00000514757.1:p.Glu142Ter | |
| ENST00000700022.1:c.469G>T | ENSP00000514758.1:p.Glu157Ter | |
| ENST00000700029.1:c.303G>T | ||
| ENST00000706954.1:c.469G>T | ENSP00000516674.1:p.Glu157Ter | |
| ENST00000706955.1:c.*504G>T | ENSP00000516675.1:n.*504G>T | |
| ENST00000686459.1:c.469G>T | ENSP00000508909.1:p.Glu157Ter | |
| ENST00000688158.1:c.*580G>T | ENSP00000509254.1:n.*580G>T | |
| ENST00000688308.1:c.469G>T | ENSP00000508752.1:p.Glu157Ter | |
| ENST00000688922.1:c.390G>T | ||
| ENST00000693560.1:c.988G>T | ENSP00000509861.1:p.Glu330Ter | |
| ENST00000371953.8:c.469G>T MANE Select | ENSP00000361021.3:p.Glu157Ter | |
| ENST00000371953.7:c.469G>T | ENSP00000361021.3:p.Glu157Ter | |
| ENST00000498703.1:n.295G>T | ||
| ENST00000610634.1:c.367G>T | ENSP00000477517.1:p.Glu123Ter | |
| NM_000314.5:c.469G>T | NP_000305.3:p.Glu157Ter | |
| NM_000314.6:c.469G>T | NP_000305.3:p.Glu157Ter | |
| NM_001304717.2:c.988G>T | NP_001291646.2:p.Glu330Ter | |
| NM_001304718.1:c.-282G>T | NP_001291647.1:n.-282G>T | |
| XM_006717926.2:c.424G>T | XP_006717989.1:p.Glu142Ter | |
| XM_011539981.1:c.469G>T | XP_011538283.1:p.Glu157Ter | |
| XM_011539982.1:c.373G>T | XP_011538284.1:p.Glu125Ter | |
| XR_945789.1:n.1181G>T | ||
| XR_945790.1:n.1181G>T | ||
| XR_945791.1:n.1181G>T | ||
| NM_000314.7:c.469G>T | NP_000305.3:p.Glu157Ter | |
| NM_001304717.5:c.988G>T | NP_001291646.4:p.Glu330Ter | |
| NM_001304718.2:c.-282G>T | NP_001291647.1:n.-282G>T | |
| NM_000314.8:c.469G>T MANE Select | NP_000305.3:p.Glu157Ter |