Linked Data
ClinVar Variation Id:
8545
ClinVar RCV Id:
RCV000009074
RCV000431620
RCV000435285
RCV000444854
RCV000443856
RCV000422272
RCV000425012
dbSNP Id:
rs121912580
COSMIC:
COSM1150895
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51067036G>A , CM000680.2:g.51067036G>A | GRCh38 |
| NC_000018.9:g.48593406G>A , CM000680.1:g.48593406G>A | GRCh37 |
| NC_000018.8:g.46847404G>A | NCBI36 |
| NG_013013.2:g.103997G>A , LRG_318:g.103997G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1157G>A | ENSP00000465878.2:p.Gly386Asp | |
| ENST00000589076.6:c.1157G>A | ENSP00000466934.2:p.Gly386Asp | |
| ENST00000589941.2:c.1157G>A | ENSP00000465874.2:p.Gly386Asp | |
| ENST00000590061.2:c.1157G>A | ENSP00000464772.2:p.Gly386Asp | |
| ENST00000593223.2:c.1157G>A | ENSP00000466118.2:p.Gly386Asp | |
| ENST00000611848.2:c.1157G>A | ENSP00000478613.2:p.Gly386Asp | |
| ENST00000684953.1:n.2529G>A | ||
| ENST00000685090.1:n.1608G>A | ||
| ENST00000685232.1:n.1265G>A | ||
| ENST00000688574.1:n.1265G>A | ||
| ENST00000691124.1:n.2639G>A | ||
| ENST00000342988.8:c.1157G>A MANE Select | ENSP00000341551.3:p.Gly386Asp | |
| ENST00000342988.7:c.1157G>A | ENSP00000341551.3:p.Gly386Asp | |
| ENST00000398417.6:c.1157G>A | ENSP00000381452.1:p.Gly386Asp | |
| ENST00000588745.5:c.869G>A | ENSP00000464901.1:p.Gly290Asp | |
| ENST00000590499.1:n.215G>A | ||
| ENST00000591126.5:n.3158G>A | ||
| ENST00000592186.5:c.955+7120G>A | ENSP00000468611.1:n.955+7120G>A | |
| ENST00000611848.1:c.357G>A | ||
| NM_005359.5:c.1157G>A , LRG_318t1:c.1157G>A | NP_005350.1:p.Gly386Asp | |
| NM_005359.6:c.1157G>A MANE Select | NP_005350.1:p.Gly386Asp |