Linked Data
ClinVar Variation Id:
66189
ClinVar RCV Id:
RCV000056528
dbSNP Id:
rs60537449
COSMIC:
COSM4042899
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52646782T>A , CM000674.2:g.52646782T>A | GRCh38 |
| NC_000012.11:g.53040566T>A , CM000674.1:g.53040566T>A | GRCh37 |
| NC_000012.10:g.51326833T>A | NCBI36 |
| NG_008296.1:g.10394A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.1427A>T MANE Select | ENSP00000310861.3:p.Glu476Val | |
| ENST00000309680.3:c.1427A>T | ENSP00000310861.3:p.Glu476Val | |
| NM_000423.2:c.1427A>T | NP_000414.2:p.Glu476Val | |
| NM_000423.3:c.1427A>T MANE Select | NP_000414.2:p.Glu476Val |