Linked Data
ClinVar Variation Id:
41882
ClinVar RCV Id:
RCV000034813
dbSNP Id:
rs397515439
PubMed:
PMID:23255084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134144330G>A , CM000673.2:g.134144330G>A | GRCh38 |
| NC_000011.9:g.134014225G>A , CM000673.1:g.134014225G>A | GRCh37 |
| NC_000011.8:g.133519435G>A | NCBI36 |
| NG_028348.1:g.80406G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299106.9:c.346G>A MANE Select | ENSP00000299106.4:p.Glu116Lys | |
| ENST00000299106.8:c.346G>A | ENSP00000299106.4:p.Glu116Lys | |
| ENST00000441717.3:c.257-462G>A | ENSP00000395742.3:n.257-462G>A | |
| ENST00000524969.5:n.410G>A | ||
| ENST00000531302.5:n.345G>A | ||
| ENST00000532165.1:n.376G>A | ||
| ENST00000532252.5:c.*336G>A | ENSP00000432455.1:n.*336G>A | |
| ENST00000534549.5:c.166G>A | ENSP00000433206.1:p.Glu56Lys | |
| NM_001205329.1:c.257-462G>A | NP_001192258.1:n.257-462G>A | |
| NM_032801.4:c.346G>A | NP_116190.3:p.Glu116Lys | |
| NM_032801.5:c.346G>A MANE Select | NP_116190.3:p.Glu116Lys | |
| NM_001205329.2:c.257-462G>A | NP_001192258.1:n.257-462G>A |