Linked Data
ClinVar Variation Id:
265024
ClinVar RCV Id:
RCV000256044
dbSNP Id:
rs886039302
COSMIC:
COSM905244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432767C>T , CM000663.2:g.229432767C>T | GRCh38 |
| NC_000001.10:g.229568514C>T , CM000663.1:g.229568514C>T | GRCh37 |
| NC_000001.9:g.227635137C>T | NCBI36 |
| NG_006672.1:g.6330G>A , LRG_429:g.6330G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.243G>A | ENSP00000355644.4:p.Trp81Ter | |
| ENST00000684723.1:c.108G>A | ENSP00000508084.1:p.Trp36Ter | |
| ENST00000366683.3:c.243G>A | ENSP00000355644.3:p.Trp81Ter | |
| ENST00000366684.7:c.243G>A MANE Select | ENSP00000355645.3:p.Trp81Ter | |
| NM_001100.3:c.243G>A , LRG_429t1:c.243G>A | NP_001091.1:p.Trp81Ter | |
| NM_001100.4:c.243G>A MANE Select | NP_001091.1:p.Trp81Ter |