Linked Data
ClinVar Variation Id:
417773
ClinVar RCV Id:
RCV000477689
dbSNP Id:
rs1060505037
COSMIC:
COSM4112361
PubMed:
PMID:28065471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.113784227G>A , CM000665.2:g.113784227G>A | GRCh38 |
| NC_000003.11:g.113503074G>A , CM000665.1:g.113503074G>A | GRCh37 |
| NC_000003.10:g.114985764G>A | NCBI36 |
| NG_047012.1:g.42209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496747.6:c.116G>A | ENSP00000417545.2:p.Gly39Asp | |
| ENST00000703904.2:c.215G>A | ENSP00000515542.1:p.Gly72Asp | |
| ENST00000703907.1:n.315G>A | ||
| ENST00000703908.1:c.215G>A | ENSP00000515545.1:p.Gly72Asp | |
| ENST00000703909.1:c.215G>A | ENSP00000515546.1:p.Gly72Asp | |
| ENST00000703910.1:c.215G>A | ENSP00000515547.1:p.Gly72Asp | |
| ENST00000703911.1:c.215G>A | ENSP00000515548.1:p.Gly72Asp | |
| ENST00000273398.8:c.215G>A MANE Select | ENSP00000273398.3:p.Gly72Asp | |
| ENST00000273398.7:c.215G>A | ENSP00000273398.3:p.Gly72Asp | |
| ENST00000470455.5:c.*117G>A | ENSP00000420146.1:n.*117G>A | |
| ENST00000475322.1:c.215G>A | ENSP00000419294.1:p.Gly72Asp | |
| ENST00000496747.5:c.116G>A | ENSP00000417545.1:p.Gly39Asp | |
| NM_001690.3:c.215G>A | NP_001681.2:p.Gly72Asp | |
| NM_001690.4:c.215G>A MANE Select | NP_001681.2:p.Gly72Asp |