Linked Data
ClinVar Variation Id:
66304
ClinVar RCV Id:
RCV000056666
dbSNP Id:
rs267607399
COSMIC:
COSM4901187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583368C>T , CM000679.2:g.41583368C>T | GRCh38 |
| NC_000017.10:g.39739620C>T , CM000679.1:g.39739620C>T | GRCh37 |
| NC_000017.9:g.36993146C>T | NCBI36 |
| NG_008624.1:g.8528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1141G>A MANE Select | ENSP00000167586.6:p.Glu381Lys | |
| ENST00000167586.6:c.1141G>A | ENSP00000167586.6:p.Glu381Lys | |
| ENST00000441550.2:n.88G>A | ||
| ENST00000476662.1:n.591G>A | ||
| NM_000526.4:c.1141G>A | NP_000517.2:p.Glu381Lys | |
| NM_000526.5:c.1141G>A MANE Select | NP_000517.3:p.Glu381Lys |