Linked Data
dbSNP Id:
rs1479959461
gnomAD v2:
12-8757434-C-T
gnomAD v3:
12-8604838-C-T
gnomAD v4:
12-8604838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8604838C>T , CM000674.2:g.8604838C>T | GRCh38 |
| NC_000012.11:g.8757434C>T , CM000674.1:g.8757434C>T | GRCh37 |
| NC_000012.10:g.8648701C>T | NCBI36 |
| NG_011588.1:g.13009G>A , LRG_17:g.13009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.482G>A | ENSP00000445691.1:p.Arg161His | |
| ENST00000543081.6:c.427+377G>A | ENSP00000439103.2:n.427+377G>A | |
| ENST00000544516.6:c.157-501G>A | ENSP00000439538.2:n.157-501G>A | |
| ENST00000545576.2:n.913G>A | ||
| ENST00000696246.1:c.467G>A | ENSP00000512504.1:p.Arg156His | |
| ENST00000696271.1:n.924G>A | ||
| ENST00000696272.1:c.497G>A | ENSP00000512515.1:p.Arg166His | |
| ENST00000696273.1:c.545G>A | ENSP00000512516.1:p.Arg182His | |
| ENST00000229335.11:c.512G>A MANE Select | ENSP00000229335.6:p.Arg171His | |
| ENST00000229335.10:c.512G>A | ENSP00000229335.6:p.Arg171His | |
| ENST00000537228.5:c.482G>A | ENSP00000445691.1:p.Arg161His | |
| ENST00000543081.5:c.423+377G>A | ||
| ENST00000544516.5:c.153-501G>A | ||
| ENST00000545512.1:c.508G>A | ||
| ENST00000545576.1:n.838G>A | ||
| NM_020661.2:c.512G>A , LRG_17t1:c.512G>A | NP_065712.1:p.Arg171His | |
| XM_011520772.1:c.482G>A | XP_011519074.1:p.Arg161His | |
| XM_011520773.1:c.427+377G>A | XP_011519075.1:n.427+377G>A | |
| NM_001330343.1:c.482G>A | NP_001317272.1:p.Arg161His | |
| NM_020661.3:c.512G>A | NP_065712.1:p.Arg171His | |
| XM_011520773.2:c.427+377G>A | XP_011519075.1:n.427+377G>A | |
| NM_020661.4:c.512G>A MANE Select | NP_065712.1:p.Arg171His | |
| NM_001330343.2:c.482G>A | NP_001317272.1:p.Arg161His |