Linked Data
ClinVar Variation Id:
376086
ClinVar RCV Id:
RCV000430260
dbSNP Id:
rs121913453
gnomAD v4:
9-130862962-G-A
COSMIC:
COSM12577
PubMed:
PMID:11964322
PMID:12623848
PMID:20367437
PMID:21505103
PMID:21895409
PMID:22870928
PMID:23676790
PMID:25157968
CIViC:
CA16602547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862962G>A , CM000671.2:g.130862962G>A | GRCh38 |
| NC_000009.11:g.133738349G>A , CM000671.1:g.133738349G>A | GRCh37 |
| NC_000009.10:g.132728170G>A | NCBI36 |
| NG_012034.1:g.154082G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.806G>A | ENSP00000361423.2:p.Gly269Glu | |
| ENST00000318560.6:c.749G>A MANE Select | ENSP00000323315.5:p.Gly250Glu | |
| ENST00000372348.7:c.806G>A | ENSP00000361423.2:p.Gly269Glu | |
| ENST00000318560.5:c.749G>A | ENSP00000323315.5:p.Gly250Glu | |
| ENST00000372348.6:c.806G>A | ENSP00000361423.2:p.Gly269Glu | |
| NM_005157.5:c.749G>A | NP_005148.2:p.Gly250Glu | |
| NM_007313.2:c.806G>A | NP_009297.2:p.Gly269Glu | |
| NM_005157.6:c.749G>A MANE Select | NP_005148.2:p.Gly250Glu | |
| NM_007313.3:c.806G>A | NP_009297.2:p.Gly269Glu |