Linked Data
ClinVar Variation Id:
161644
ClinVar RCV Id:
RCV000149180
dbSNP Id:
rs193921116
COSMIC:
COSM1179479
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52678591C>A , CM000674.2:g.52678591C>A | GRCh38 |
| NC_000012.11:g.53072375C>A , CM000674.1:g.53072375C>A | GRCh37 |
| NC_000012.10:g.51358642C>A | NCBI36 |
| NG_008364.1:g.6817G>T | |
| NG_008364.2:g.6817G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.757G>T MANE Select | ENSP00000252244.3:p.Asp253Tyr | |
| NM_006121.3:c.757G>T | NP_006112.3:p.Asp253Tyr | |
| NM_006121.4:c.757G>T MANE Select | NP_006112.3:p.Asp253Tyr |