Linked Data
ClinVar Variation Id:
14320
ClinVar RCV Id:
RCV000015396
dbSNP Id:
rs121913557
PubMed:
PMID:11487744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372202C>T , CM000680.2:g.60372202C>T | GRCh38 |
| NC_000018.9:g.58039435C>T , CM000680.1:g.58039435C>T | GRCh37 |
| NC_000018.8:g.56190415C>T | NCBI36 |
| NG_016441.1:g.5567G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299766.5:c.148G>A MANE Select | ENSP00000299766.3:p.Val50Met | |
| ENST00000299766.4:c.148G>A | ENSP00000299766.3:p.Val50Met | |
| NM_005912.2:c.148G>A | NP_005903.2:p.Val50Met | |
| NM_005912.3:c.148G>A MANE Select | NP_005903.2:p.Val50Met |