Linked Data
ClinVar Variation Id:
3418
ClinVar RCV Id:
RCV000003587
dbSNP Id:
rs121434228
COSMIC:
COSM1929251
PubMed:
PMID:12920575
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209789709C>T , CM000663.2:g.209789709C>T | GRCh38 |
| NC_000001.10:g.209963054C>T , CM000663.1:g.209963054C>T | GRCh37 |
| NC_000001.9:g.208029677C>T | NCBI36 |
| NG_007081.2:g.21426G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696133.1:c.1137G>A | ENSP00000512426.1:p.Trp379Ter | |
| ENST00000696134.1:c.*564G>A | ENSP00000512427.1:n.*564G>A | |
| ENST00000367021.8:c.1137G>A MANE Select | ENSP00000355988.3:p.Trp379Ter | |
| ENST00000643798.1:c.*647G>A | ENSP00000496669.1:n.*647G>A | |
| ENST00000367021.7:c.1137G>A | ENSP00000355988.3:p.Trp379Ter | |
| ENST00000542854.5:c.852G>A | ENSP00000440532.1:p.Trp284Ter | |
| NM_001206696.1:c.852G>A | NP_001193625.1:p.Trp284Ter | |
| NM_006147.3:c.1137G>A | NP_006138.1:p.Trp379Ter | |
| NM_006147.4:c.1137G>A MANE Select | NP_006138.1:p.Trp379Ter | |
| NM_001206696.2:c.852G>A | NP_001193625.1:p.Trp284Ter |