Linked Data
ClinVar Variation Id:
376084
ClinVar RCV Id:
RCV000440973
dbSNP Id:
rs121913456
COSMIC:
COSM12608
PubMed:
PMID:12399961
PMID:12576318
PMID:12623848
PMID:18223278
PMID:20367437
PMID:21888027
PMID:21895409
PMID:23676790
PMID:25157968
CIViC:
CA16602545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130862943A>G , CM000671.2:g.130862943A>G | GRCh38 |
| NC_000009.11:g.133738330A>G , CM000671.1:g.133738330A>G | GRCh37 |
| NC_000009.10:g.132728151A>G | NCBI36 |
| NG_012034.1:g.154063A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.787A>G | ENSP00000361423.2:p.Met263Val | |
| ENST00000318560.6:c.730A>G MANE Select | ENSP00000323315.5:p.Met244Val | |
| ENST00000372348.7:c.787A>G | ENSP00000361423.2:p.Met263Val | |
| ENST00000318560.5:c.730A>G | ENSP00000323315.5:p.Met244Val | |
| ENST00000372348.6:c.787A>G | ENSP00000361423.2:p.Met263Val | |
| NM_005157.5:c.730A>G | NP_005148.2:p.Met244Val | |
| NM_007313.2:c.787A>G | NP_009297.2:p.Met263Val | |
| NM_005157.6:c.730A>G MANE Select | NP_005148.2:p.Met244Val | |
| NM_007313.3:c.787A>G | NP_009297.2:p.Met263Val |