Linked Data
ClinVar Variation Id:
221982
ClinVar RCV Id:
RCV000207447
dbSNP Id:
rs869025309
gnomAD v2:
12-132426175-C-T
gnomAD v3:
12-131941630-C-T
gnomAD v4:
12-131941630-C-T
COSMIC:
COSM1263579
PubMed:
PMID:25227147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941630C>T , CM000674.2:g.131941630C>T | GRCh38 |
| NC_000012.11:g.132426175C>T , CM000674.1:g.132426175C>T | GRCh37 |
| NC_000012.10:g.130992128C>T | NCBI36 |
| NG_013039.1:g.17431C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376649.8:c.883C>T MANE Select | ENSP00000365837.3:p.Arg295Trp | |
| ENST00000322060.9:c.799C>T | ENSP00000324726.5:p.Arg267Trp | |
| ENST00000376649.7:c.883C>T | ENSP00000365837.3:p.Arg295Trp | |
| ENST00000443358.6:c.799C>T | ENSP00000392451.2:p.Arg267Trp | |
| ENST00000535067.5:c.358-1909C>T | ENSP00000443969.1:n.358-1909C>T | |
| ENST00000542167.2:c.724C>T | ENSP00000438948.1:p.Arg242Trp | |
| ENST00000543754.1:n.704C>T | ||
| NM_001002019.2:c.799C>T | NP_001002019.1:p.Arg267Trp | |
| NM_001002020.2:c.799C>T | NP_001002020.1:p.Arg267Trp | |
| NM_025215.5:c.883C>T | NP_079491.2:p.Arg295Trp | |
| XM_011538768.1:c.484C>T | XP_011537070.1:p.Arg162Trp | |
| XM_011538768.3:c.484C>T | XP_011537070.1:p.Arg162Trp | |
| XR_001748872.1:n.1338C>T | ||
| NM_001002019.3:c.799C>T | NP_001002019.1:p.Arg267Trp | |
| NM_001002020.3:c.799C>T | NP_001002020.1:p.Arg267Trp | |
| NM_025215.6:c.883C>T MANE Select | NP_079491.2:p.Arg295Trp |