Linked Data
ClinVar Variation Id:
37131
ClinVar RCV Id:
RCV000030762
dbSNP Id:
rs387907289
COSMIC:
COSM3463845
PubMed:
PMID:21623771
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57567608G>A , CM000674.2:g.57567608G>A | GRCh38 |
| NC_000012.11:g.57961391G>A , CM000674.1:g.57961391G>A | GRCh37 |
| NC_000012.10:g.56247658G>A | NCBI36 |
| NG_008155.1:g.22545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.704G>A MANE Select | ENSP00000408979.2:p.Gly235Glu | |
| ENST00000674619.1:c.704G>A | ENSP00000502270.1:p.Gly235Glu | |
| ENST00000676457.1:c.599G>A | ENSP00000501588.1:p.Gly200Glu | |
| ENST00000286452.5:c.437G>A | ENSP00000286452.5:p.Gly146Glu | |
| ENST00000455537.6:c.704G>A | ENSP00000408979.2:p.Gly235Glu | |
| NM_004984.2:c.704G>A | NP_004975.2:p.Gly235Glu | |
| NM_001354705.1:c.437G>A | NP_001341634.1:p.Gly146Glu | |
| NM_004984.3:c.704G>A | NP_004975.2:p.Gly235Glu | |
| XR_002957324.1:n.937G>A | ||
| NM_004984.4:c.704G>A MANE Select | NP_004975.2:p.Gly235Glu | |
| NM_001354705.2:c.437G>A | NP_001341634.1:p.Gly146Glu |