Linked Data
ClinVar Variation Id:
236241
dbSNP Id:
rs878853277
COSMIC:
COSM1176442
PubMed:
PMID:27231034
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154435338G>A , CM000685.2:g.154435338G>A | GRCh38 |
| NC_000023.10:g.153663684G>A , CM000685.1:g.153663684G>A | GRCh37 |
| NC_000023.9:g.153316878G>A | NCBI36 |
| NG_008954.1:g.3426G>A | |
| NG_052807.1:g.11707G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369762.7:c.1036G>A MANE Select | ENSP00000358777.2:p.Glu346Lys | |
| ENST00000439372.6:c.*998G>A | ENSP00000408317.1:n.*998G>A | |
| ENST00000484908.2:n.1562G>A | ||
| ENST00000619046.5:c.652G>A | ENSP00000482243.2:p.Glu218Lys | |
| ENST00000677332.1:c.971G>A | ENSP00000502914.1:n.971G>A | |
| ENST00000677342.1:c.*314G>A | ENSP00000503173.1:n.*314G>A | |
| ENST00000678317.1:n.1568G>A | ||
| ENST00000679241.1:c.*102G>A | ENSP00000503588.1:n.*102G>A | |
| ENST00000369762.6:c.1036G>A | ENSP00000358777.2:p.Glu346Lys | |
| ENST00000422890.5:c.778G>A | ENSP00000398511.1:p.Glu260Lys | |
| ENST00000429585.5:c.728G>A | ENSP00000408470.1:n.728G>A | |
| ENST00000455205.5:c.3514G>A | ||
| ENST00000491569.5:n.1078G>A | ||
| ENST00000619046.4:c.469G>A | ENSP00000482243.1:p.Glu157Lys | |
| NM_001183.5:c.1036G>A | NP_001174.2:p.Glu346Lys | |
| XM_011531179.1:c.469G>A | XP_011529481.1:p.Glu157Lys | |
| NM_001183.6:c.1036G>A MANE Select | NP_001174.2:p.Glu346Lys |