Linked Data
ClinVar Variation Id:
847636
ClinVar RCV Id:
RCV001051227
dbSNP Id:
rs1910180767
COSMIC:
COSM14132
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51067080T>C , CM000680.2:g.51067080T>C | GRCh38 |
| NC_000018.9:g.48593450T>C , CM000680.1:g.48593450T>C | GRCh37 |
| NC_000018.8:g.46847448T>C | NCBI36 |
| NG_013013.2:g.104041T>C , LRG_318:g.104041T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1201T>C | ENSP00000465878.2:p.Cys401Arg | |
| ENST00000589076.6:c.1201T>C | ENSP00000466934.2:p.Cys401Arg | |
| ENST00000589941.2:c.1201T>C | ENSP00000465874.2:p.Cys401Arg | |
| ENST00000590061.2:c.1201T>C | ENSP00000464772.2:p.Cys401Arg | |
| ENST00000593223.2:c.1201T>C | ENSP00000466118.2:p.Cys401Arg | |
| ENST00000611848.2:c.1201T>C | ENSP00000478613.2:p.Cys401Arg | |
| ENST00000684953.1:n.2573T>C | ||
| ENST00000685090.1:n.1652T>C | ||
| ENST00000685232.1:n.1309T>C | ||
| ENST00000688574.1:n.1309T>C | ||
| ENST00000691124.1:n.2683T>C | ||
| ENST00000342988.8:c.1201T>C MANE Select | ENSP00000341551.3:p.Cys401Arg | |
| ENST00000342988.7:c.1201T>C | ENSP00000341551.3:p.Cys401Arg | |
| ENST00000398417.6:c.1201T>C | ENSP00000381452.1:p.Cys401Arg | |
| ENST00000588745.5:c.913T>C | ENSP00000464901.1:p.Cys305Arg | |
| ENST00000590499.1:n.259T>C | ||
| ENST00000591126.5:n.3202T>C | ||
| ENST00000592186.5:c.955+7164T>C | ENSP00000468611.1:n.955+7164T>C | |
| ENST00000611848.1:c.401T>C | ||
| NM_005359.5:c.1201T>C , LRG_318t1:c.1201T>C | NP_005350.1:p.Cys401Arg | |
| NM_005359.6:c.1201T>C MANE Select | NP_005350.1:p.Cys401Arg |