Linked Data
ClinVar Variation Id:
161645
ClinVar RCV Id:
RCV000149181
dbSNP Id:
rs193920875
COSMIC:
COSM1179928
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.21534394G>T , CM000673.2:g.21534394G>T | GRCh38 |
| NC_000011.9:g.21555940G>T , CM000673.1:g.21555940G>T | GRCh37 |
| NC_000011.8:g.21512516G>T | NCBI36 |
| NG_047064.1:g.869844G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357134.10:c.1666G>T MANE Select | ENSP00000349654.5:p.Gly556Ter | |
| ENST00000298925.9:c.1750G>T | ENSP00000298925.5:p.Gly584Ter | |
| ENST00000325319.9:c.1495G>T | ENSP00000317837.5:p.Gly499Ter | |
| ENST00000357134.9:c.1666G>T | ENSP00000349654.5:p.Gly556Ter | |
| ENST00000529218.5:n.1020G>T | ||
| ENST00000532434.5:c.1646-25795G>T | ENSP00000437170.1:n.1646-25795G>T | |
| ENST00000619031.4:c.946G>T | ENSP00000479479.1:p.Gly316Ter | |
| NM_001288713.1:c.1750G>T | NP_001275642.1:p.Gly584Ter | |
| NM_001288714.1:c.1495G>T | NP_001275643.1:p.Gly499Ter | |
| NM_006157.4:c.1666G>T | NP_006148.2:p.Gly556Ter | |
| NM_201551.2:c.1646-25795G>T | NP_963845.1:n.1646-25795G>T | |
| XM_011520119.1:c.709G>T | XP_011518421.1:p.Gly237Ter | |
| NM_006157.5:c.1666G>T MANE Select | NP_006148.2:p.Gly556Ter |