Linked Data
ClinVar Variation Id:
161485
ClinVar RCV Id:
RCV000149019
dbSNP Id:
rs193920807
COSMIC:
COSM1179311
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158699706C>A , CM000663.2:g.158699706C>A | GRCh38 |
| NC_000001.10:g.158669496C>A , CM000663.1:g.158669496C>A | GRCh37 |
| NC_000001.9:g.156936120C>A | NCBI36 |
| NG_053139.1:g.5991G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359610.3:c.947G>T MANE Select | ENSP00000352626.2:p.Arg316Ile | |
| NM_001005279.1:c.947G>T | NP_001005279.1:p.Arg316Ile | |
| NM_001005279.2:c.947G>T | NP_001005279.1:p.Arg316Ile | |
| NM_001005279.3:c.947G>T MANE Select | NP_001005279.1:p.Arg316Ile |