Linked Data
dbSNP Id:
rs547268043
ExAC:
22:43019833 C / T
gnomAD v2:
22-43019833-C-T
gnomAD v3:
22-42623827-C-T
gnomAD v4:
22-42623827-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42623827C>T , CM000684.2:g.42623827C>T | GRCh38 |
| NC_000022.10:g.43019833C>T , CM000684.1:g.43019833C>T | GRCh37 |
| NC_000022.9:g.41349777C>T | NCBI36 |
| NG_012194.1:g.30573G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361740.9:c.827G>A | ENSP00000354468.5:p.Arg276His | |
| ENST00000402438.6:c.626G>A | ENSP00000385679.1:p.Arg209His | |
| ENST00000407332.6:c.713G>A | ENSP00000384457.2:p.Arg238His | |
| ENST00000407623.8:c.626G>A | ENSP00000384834.3:p.Arg209His | |
| ENST00000617178.5:c.232G>A | ||
| ENST00000684963.1:n.2435G>A | ||
| ENST00000685184.1:n.287G>A | ||
| ENST00000686523.1:c.*644G>A | ENSP00000508940.1:n.*644G>A | |
| ENST00000687183.1:n.971G>A | ||
| ENST00000687198.1:c.626G>A | ENSP00000508492.1:p.Arg209His | |
| ENST00000688117.1:c.794G>A | ENSP00000509015.1:p.Arg265His | |
| ENST00000688244.1:c.395G>A | ENSP00000510355.1:p.Arg132His | |
| ENST00000689001.1:n.1317G>A | ||
| ENST00000689195.1:c.611G>A | ENSP00000509895.1:p.Arg204His | |
| ENST00000689239.1:n.862G>A | ||
| ENST00000689795.1:n.956G>A | ||
| ENST00000690835.1:c.*74G>A | ENSP00000509038.1:n.*74G>A | |
| ENST00000690993.1:n.1450G>A | ||
| ENST00000691295.1:c.*178G>A | ENSP00000508706.1:n.*178G>A | |
| ENST00000691918.1:c.985G>A | ENSP00000509525.1:n.985G>A | |
| ENST00000692152.1:c.626G>A | ENSP00000509317.1:p.Arg209His | |
| ENST00000692344.1:n.1182G>A | ||
| ENST00000693363.1:c.737G>A | ENSP00000510411.1:p.Arg246His | |
| ENST00000693367.1:c.695G>A | ENSP00000508815.1:p.Arg232His | |
| ENST00000693639.1:c.688G>A | ENSP00000510223.1:n.688G>A | |
| ENST00000693646.1:c.601G>A | ENSP00000508449.1:n.601G>A | |
| ENST00000352397.10:c.695G>A MANE Select | ENSP00000338461.6:p.Arg232His | |
| ENST00000352397.9:c.695G>A | ENSP00000338461.6:p.Arg232His | |
| ENST00000361740.8:c.794G>A | ENSP00000354468.4:p.Arg265His | |
| ENST00000402438.5:c.626G>A | ENSP00000385679.1:p.Arg209His | |
| ENST00000407332.5:c.626G>A | ENSP00000384457.1:p.Arg209His | |
| ENST00000407623.7:c.626G>A | ENSP00000384834.3:p.Arg209His | |
| ENST00000470741.1:n.2829G>A | ||
| NM_000398.6:c.695G>A | NP_000389.1:p.Arg232His | |
| NM_001129819.2:c.626G>A | NP_001123291.1:p.Arg209His | |
| NM_001171660.1:c.794G>A | NP_001165131.1:p.Arg265His | |
| NM_001171661.1:c.626G>A | NP_001165132.1:p.Arg209His | |
| NM_007326.4:c.626G>A | NP_015565.1:p.Arg209His | |
| NM_000398.7:c.695G>A MANE Select | NP_000389.1:p.Arg232His | |
| NM_001171660.2:c.794G>A | NP_001165131.1:p.Arg265His |