Linked Data
ClinVar Variation Id:
37127
dbSNP Id:
rs387907285
gnomAD v4:
12-57568999-G-A
PubMed:
PMID:18853458
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57568999G>A , CM000674.2:g.57568999G>A | GRCh38 |
| NC_000012.11:g.57962782G>A , CM000674.1:g.57962782G>A | GRCh37 |
| NC_000012.10:g.56249049G>A | NCBI36 |
| NG_008155.1:g.23936G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.751G>A MANE Select | ENSP00000408979.2:p.Glu251Lys | |
| ENST00000674619.1:c.751G>A | ENSP00000502270.1:p.Glu251Lys | |
| ENST00000676457.1:c.646G>A | ENSP00000501588.1:p.Glu216Lys | |
| ENST00000286452.5:c.484G>A | ENSP00000286452.5:p.Glu162Lys | |
| ENST00000455537.6:c.751G>A | ENSP00000408979.2:p.Glu251Lys | |
| NM_004984.2:c.751G>A | NP_004975.2:p.Glu251Lys | |
| NM_001354705.1:c.484G>A | NP_001341634.1:p.Glu162Lys | |
| NM_004984.3:c.751G>A | NP_004975.2:p.Glu251Lys | |
| XR_002957324.1:n.984G>A | ||
| NM_004984.4:c.751G>A MANE Select | NP_004975.2:p.Glu251Lys | |
| NM_001354705.2:c.484G>A | NP_001341634.1:p.Glu162Lys |