Linked Data
ClinVar Variation Id:
424697
dbSNP Id:
rs1488871976
gnomAD v2:
12-57960979-G-A
gnomAD v4:
12-57567196-G-A
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57567196G>A , CM000674.2:g.57567196G>A | GRCh38 |
| NC_000012.11:g.57960979G>A , CM000674.1:g.57960979G>A | GRCh37 |
| NC_000012.10:g.56247246G>A | NCBI36 |
| NG_008155.1:g.22133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.572G>A MANE Select | ENSP00000408979.2:p.Arg191His | |
| ENST00000674619.1:c.572G>A | ENSP00000502270.1:p.Arg191His | |
| ENST00000676457.1:c.467G>A | ENSP00000501588.1:p.Arg156His | |
| ENST00000286452.5:c.305G>A | ENSP00000286452.5:p.Arg102His | |
| ENST00000455537.6:c.572G>A | ENSP00000408979.2:p.Arg191His | |
| NM_004984.2:c.572G>A | NP_004975.2:p.Arg191His | |
| NM_001354705.1:c.305G>A | NP_001341634.1:p.Arg102His | |
| NM_004984.3:c.572G>A | NP_004975.2:p.Arg191His | |
| XR_002957324.1:n.805G>A | ||
| NM_004984.4:c.572G>A MANE Select | NP_004975.2:p.Arg191His | |
| NM_001354705.2:c.305G>A | NP_001341634.1:p.Arg102His |