Linked Data
ClinVar Variation Id:
37128
dbSNP Id:
rs387907286
ExAC:
12:57970608 G / A
gnomAD v2:
12-57970608-G-A
gnomAD v3:
12-57576825-G-A
gnomAD v4:
12-57576825-G-A
PubMed:
PMID:21623771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57576825G>A , CM000674.2:g.57576825G>A | GRCh38 |
| NC_000012.11:g.57970608G>A , CM000674.1:g.57970608G>A | GRCh37 |
| NC_000012.10:g.56256875G>A | NCBI36 |
| NG_008155.1:g.31762G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2263G>A MANE Select | ENSP00000408979.2:p.Glu755Lys | |
| ENST00000674619.1:c.2263G>A | ENSP00000502270.1:p.Glu755Lys | |
| ENST00000675299.1:c.411G>A | ENSP00000501888.1:n.411G>A | |
| ENST00000675397.1:n.33G>A | ||
| ENST00000675882.1:n.1250G>A | ||
| ENST00000675929.1:n.821G>A | ||
| ENST00000675984.1:n.2333G>A | ||
| ENST00000676081.1:n.1908G>A | ||
| ENST00000676457.1:c.2158G>A | ENSP00000501588.1:p.Glu720Lys | |
| ENST00000286452.5:c.1996G>A | ENSP00000286452.5:p.Glu666Lys | |
| ENST00000455537.6:c.2263G>A | ENSP00000408979.2:p.Glu755Lys | |
| NM_004984.2:c.2263G>A | NP_004975.2:p.Glu755Lys | |
| NM_001354705.1:c.1996G>A | NP_001341634.1:p.Glu666Lys | |
| NM_004984.3:c.2263G>A | NP_004975.2:p.Glu755Lys | |
| XR_002957324.1:n.2496G>A | ||
| NM_004984.4:c.2263G>A MANE Select | NP_004975.2:p.Glu755Lys | |
| NM_001354705.2:c.1996G>A | NP_001341634.1:p.Glu666Lys |