Linked Data
ClinVar Variation Id:
8420
ClinVar RCV Id:
RCV000008931
dbSNP Id:
rs74315301
COSMIC:
COSM4022048
PubMed:
PMID:8703060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150796799T>C , CM000663.2:g.150796799T>C | GRCh38 |
| NC_000001.10:g.150769275T>C , CM000663.1:g.150769275T>C | GRCh37 |
| NC_000001.9:g.149035899T>C | NCBI36 |
| NG_011848.1:g.16538A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.990A>G MANE Select | ENSP00000271651.3:p.Ter330Trp | |
| ENST00000443913.2:c.1167A>G | ENSP00000405083.2:p.Ter389Trp | |
| ENST00000480670.2:n.4059A>G | ||
| ENST00000676680.1:c.*284A>G | ENSP00000503270.1:n.*284A>G | |
| ENST00000676716.1:c.867A>G | ENSP00000504737.1:p.Ter289Trp | |
| ENST00000676751.1:c.884A>G | ENSP00000502964.1:p.Asp295Gly | |
| ENST00000676824.1:c.990A>G | ENSP00000504176.1:p.Ter330Trp | |
| ENST00000676966.1:c.990A>G | ENSP00000503723.1:p.Ter330Trp | |
| ENST00000676970.1:c.1002A>G | ENSP00000503832.1:p.Ter334Trp | |
| ENST00000677330.1:n.2816A>G | ||
| ENST00000677611.1:n.842A>G | ||
| ENST00000677887.1:c.1032A>G | ENSP00000503876.1:p.Ter344Trp | |
| ENST00000678275.1:c.*882A>G | ENSP00000504796.1:n.*882A>G | |
| ENST00000678337.1:c.1026A>G | ENSP00000504759.1:p.Ter342Trp | |
| ENST00000678725.1:n.2237A>G | ||
| ENST00000679090.1:n.1845A>G | ||
| ENST00000679148.1:n.3952A>G | ||
| ENST00000679171.1:n.3621A>G | ||
| ENST00000679178.1:n.701A>G | ||
| ENST00000679260.1:c.771A>G | ENSP00000504534.1:p.Ter257Trp | |
| ENST00000271651.7:c.990A>G | ENSP00000271651.3:p.Ter330Trp | |
| NM_000396.3:c.990A>G | NP_000387.1:p.Ter330Trp | |
| NM_000396.4:c.990A>G MANE Select | NP_000387.1:p.Ter330Trp |