Linked Data
ClinVar Variation Id:
29950
ClinVar RCV Id:
RCV000022842
dbSNP Id:
rs387906709
PubMed:
PMID:21857683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.56565363C>A , CM000685.2:g.56565363C>A | GRCh38 |
| NC_000023.10:g.56591796C>A , CM000685.1:g.56591796C>A | GRCh37 |
| NC_000023.9:g.56608521C>A | NCBI36 |
| NG_016249.1:g.6771C>A , LRG_665:g.6771C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338222.7:c.1490C>A MANE Select | ENSP00000345195.5:p.Pro497His | |
| ENST00000338222.6:c.1490C>A | ENSP00000345195.5:p.Pro497His | |
| NM_013444.3:c.1490C>A , LRG_665t1:c.1490C>A | NP_038472.2:p.Pro497His | |
| XM_011530837.1:c.273+1623C>A | XP_011529139.1:n.273+1623C>A | |
| NM_013444.4:c.1490C>A MANE Select | NP_038472.2:p.Pro497His |