Linked Data
ClinVar Variation Id:
8858
ClinVar RCV Id:
RCV001799500
dbSNP Id:
rs137852786
PubMed:
PMID:10545530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924439G>A , CM000675.2:g.27924439G>A | GRCh38 |
| NC_000013.10:g.28498576G>A , CM000675.1:g.28498576G>A | GRCh37 |
| NC_000013.9:g.27396576G>A | NCBI36 |
| NG_008183.1:g.9409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.590G>A MANE Select | ENSP00000370421.4:p.Arg197His | |
| ENST00000381033.4:c.590G>A | ENSP00000370421.4:p.Arg197His | |
| NM_000209.3:c.590G>A | NP_000200.1:p.Arg197His | |
| NM_000209.4:c.590G>A MANE Select | NP_000200.1:p.Arg197His |