Linked Data
ClinVar Variation Id:
1371871
dbSNP Id:
rs773170096
ExAC:
1:12025601 G / A
gnomAD v2:
1-12025601-G-A
gnomAD v3:
1-11965544-G-A
gnomAD v4:
1-11965544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965544G>A , CM000663.2:g.11965544G>A | GRCh38 |
| NC_000001.10:g.12025601G>A , CM000663.1:g.12025601G>A | GRCh37 |
| NC_000001.9:g.11948188G>A | NCBI36 |
| NG_008159.1:g.35856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1535G>A MANE Select | ENSP00000196061.4:p.Arg512His | |
| ENST00000196061.4:c.1535G>A | ENSP00000196061.4:p.Arg512His | |
| ENST00000470133.1:n.149G>A | ||
| ENST00000491536.5:n.163G>A | ||
| NM_000302.3:c.1535G>A | NP_000293.2:p.Arg512His | |
| NM_001316320.1:c.1676G>A | NP_001303249.1:p.Arg559His | |
| XM_011541594.1:c.1616G>A | XP_011539896.1:p.Arg539His | |
| XM_024447707.1:c.869G>A | XP_024303475.1:p.Arg290His | |
| NM_000302.4:c.1535G>A MANE Select | NP_000293.2:p.Arg512His | |
| NM_001316320.2:c.1676G>A | NP_001303249.1:p.Arg559His |