Linked Data
ClinVar Variation Id:
12926
dbSNP Id:
rs121918616
gnomAD v2:
1-160100073-G-A
gnomAD v4:
1-160130283-G-A
PubMed:
PMID:16344534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160130283G>A , CM000663.2:g.160130283G>A | GRCh38 |
| NC_000001.10:g.160100073G>A , CM000663.1:g.160100073G>A | GRCh37 |
| NC_000001.9:g.158366697G>A | NCBI36 |
| NG_008014.1:g.19526G>A , LRG_6:g.19526G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361216.8:c.1643G>A MANE Select | ENSP00000354490.3:p.Arg548His | |
| ENST00000361216.7:c.1643G>A | ENSP00000354490.3:p.Arg548His | |
| ENST00000392233.7:c.1643G>A | ENSP00000376066.3:p.Arg548His | |
| ENST00000447527.1:c.775G>A | ||
| ENST00000472488.5:n.1746G>A | ||
| NM_000702.3:c.1643G>A | NP_000693.1:p.Arg548His | |
| NM_000702.4:c.1643G>A MANE Select | NP_000693.1:p.Arg548His |