Linked Data
ClinVar Variation Id:
1495298
ClinVar RCV Id:
RCV002015235
dbSNP Id:
rs377767350
COSMIC:
COSM6019337
PubMed:
PMID:16436638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51065558T>G , CM000680.2:g.51065558T>G | GRCh38 |
| NC_000018.9:g.48591928T>G , CM000680.1:g.48591928T>G | GRCh37 |
| NC_000018.8:g.46845926T>G | NCBI36 |
| NG_013013.2:g.102519T>G , LRG_318:g.102519T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588860.6:c.1091T>G | ENSP00000465878.2:p.Leu364Trp | |
| ENST00000589076.6:c.1091T>G | ENSP00000466934.2:p.Leu364Trp | |
| ENST00000589941.2:c.1091T>G | ENSP00000465874.2:p.Leu364Trp | |
| ENST00000590061.2:c.1091T>G | ENSP00000464772.2:p.Leu364Trp | |
| ENST00000593223.2:c.1091T>G | ENSP00000466118.2:p.Leu364Trp | |
| ENST00000611848.2:c.1091T>G | ENSP00000478613.2:p.Leu364Trp | |
| ENST00000684953.1:n.2463T>G | ||
| ENST00000685090.1:n.1542T>G | ||
| ENST00000685232.1:n.1199T>G | ||
| ENST00000688307.1:n.342T>G | ||
| ENST00000688574.1:n.1199T>G | ||
| ENST00000688903.1:n.1305T>G | ||
| ENST00000691124.1:n.2573T>G | ||
| ENST00000342988.8:c.1091T>G MANE Select | ENSP00000341551.3:p.Leu364Trp | |
| ENST00000342988.7:c.1091T>G | ENSP00000341551.3:p.Leu364Trp | |
| ENST00000398417.6:c.1091T>G | ENSP00000381452.1:p.Leu364Trp | |
| ENST00000588745.5:c.803T>G | ENSP00000464901.1:p.Leu268Trp | |
| ENST00000591126.5:n.3092T>G | ||
| ENST00000592186.5:c.955+5642T>G | ENSP00000468611.1:n.955+5642T>G | |
| ENST00000611848.1:c.291T>G | ||
| NM_005359.5:c.1091T>G , LRG_318t1:c.1091T>G | NP_005350.1:p.Leu364Trp | |
| NM_005359.6:c.1091T>G MANE Select | NP_005350.1:p.Leu364Trp |