Linked Data
ClinVar Variation Id:
279893
dbSNP Id:
rs886041239
COSMIC:
COSM126325
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110593202A>G , CM000672.2:g.110593202A>G | GRCh38 |
| NC_000010.10:g.112352960A>G , CM000672.1:g.112352960A>G | GRCh37 |
| NC_000010.9:g.112342950A>G | NCBI36 |
| NG_012217.1:g.30512A>G , LRG_774:g.30512A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.2587A>G | ||
| ENST00000692792.1:n.2061A>G | ||
| ENST00000361804.5:c.1942A>G MANE Select | ENSP00000354720.5:p.Met648Val | |
| ENST00000361804.4:c.1942A>G | ENSP00000354720.4:p.Met648Val | |
| NM_005445.3:c.1942A>G , LRG_774t1:c.1942A>G | NP_005436.1:p.Met648Val | |
| NM_005445.4:c.1942A>G MANE Select | NP_005436.1:p.Met648Val |