Linked Data
dbSNP Id:
rs950588967
gnomAD v2:
9-130630604-C-T
gnomAD v3:
9-127868325-C-T
gnomAD v4:
9-127868325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127868325C>T , CM000671.2:g.127868325C>T | GRCh38 |
| NC_000009.11:g.130630604C>T , CM000671.1:g.130630604C>T | GRCh37 |
| NC_000009.10:g.129670425C>T | NCBI36 |
| NG_011792.1:g.14419G>A | |
| NG_011792.2:g.14419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476274.7:n.1012G>A | ||
| ENST00000643029.1:c.*2187G>A | ENSP00000496586.1:n.*2187G>A | |
| ENST00000643338.1:c.*2076G>A | ENSP00000495890.1:n.*2076G>A | |
| ENST00000644144.2:c.512G>A MANE Select | ENSP00000494600.1:p.Arg171His | |
| ENST00000645007.1:c.*2436G>A | ENSP00000494773.1:n.*2436G>A | |
| ENST00000646171.1:c.*545G>A | ENSP00000495484.1:n.*545G>A | |
| ENST00000223836.10:c.560G>A | ENSP00000223836.10:p.Arg187His | |
| ENST00000373156.5:c.512G>A | ENSP00000362249.1:p.Arg171His | |
| ENST00000373176.5:c.512G>A | ENSP00000362271.1:p.Arg171His | |
| ENST00000413016.5:c.334G>A | ||
| ENST00000550143.5:c.292G>A | ENSP00000449130.1:n.292G>A | |
| NM_000476.2:c.512G>A | NP_000467.1:p.Arg171His | |
| XM_005251786.2:c.560G>A | XP_005251843.1:p.Arg187His | |
| XM_011518348.1:c.512G>A | XP_011516650.1:p.Arg171His | |
| XM_011518349.1:c.332G>A | XP_011516651.1:p.Arg111His | |
| NM_001318121.1:c.512G>A | NP_001305050.1:p.Arg171His | |
| NM_001318122.1:c.560G>A | NP_001305051.1:p.Arg187His | |
| XM_017014428.1:c.512G>A | XP_016869917.1:p.Arg171His | |
| XM_024447439.1:c.491G>A | XP_024303207.1:p.Arg164His | |
| XM_024447440.1:c.332G>A | XP_024303208.1:p.Arg111His | |
| NM_001318122.2:c.560G>A | NP_001305051.1:p.Arg187His | |
| NM_000476.3:c.512G>A MANE Select | NP_000467.1:p.Arg171His | |
| NR_174625.1:n.3831G>A | ||
| NR_174626.1:n.3674G>A | ||
| NR_174627.1:n.3711G>A | ||
| NR_174628.1:n.3089G>A | ||
| NR_174629.1:n.3034G>A | ||
| NR_174630.1:n.3070G>A | ||
| NR_174631.1:n.3015G>A | ||
| NR_174632.1:n.3104G>A |