Linked Data
ClinVar Variation Id:
1957
dbSNP Id:
rs121908716
ExAC:
20:43251694 C / T
gnomAD v2:
20-43251694-C-T
gnomAD v3:
20-44623053-C-T
gnomAD v4:
20-44623053-C-T
ERepo:
CA252000/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44623053C>T , CM000682.2:g.44623053C>T | GRCh38 |
| NC_000020.10:g.43251694C>T , CM000682.1:g.43251694C>T | GRCh37 |
| NC_000020.9:g.42685108C>T | NCBI36 |
| NG_007385.1:g.33683G>A , LRG_16:g.33683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.723G>A (ADA) | ||
| ENST00000536076.2:c.479G>A (ADA) | ENSP00000512234.1:p.Arg160His | |
| ENST00000536532.6:c.632G>A (ADA) | ENSP00000440946.1:p.Arg211His | |
| ENST00000537820.2:c.607-123G>A (ADA) | ENSP00000441818.1:n.607-123G>A | |
| ENST00000539235.6:c.*16G>A (ADA) | ENSP00000446464.1:n.*16G>A | |
| ENST00000695889.1:c.219-123G>A (ADA) | ENSP00000512240.1:n.219-123G>A | |
| ENST00000695890.1:n.2435G>A (ADA) | ||
| ENST00000695891.1:c.219-123G>A (ADA) | ENSP00000512241.1:n.219-123G>A | |
| ENST00000695927.1:c.710G>A (ADA) | ENSP00000512270.1:p.Arg237His | |
| ENST00000695949.1:c.604-123G>A (ADA) | ENSP00000512281.1:n.604-123G>A | |
| ENST00000695957.1:c.*123G>A (ADA) | ENSP00000512286.1:n.*123G>A | |
| ENST00000695991.1:c.217-123G>A (ADA) | ENSP00000512314.1:n.217-123G>A | |
| ENST00000695992.1:c.632G>A (ADA) | ENSP00000512315.1:p.Arg211His | |
| ENST00000695993.1:c.632G>A (ADA) | ENSP00000512316.1:p.Arg211His | |
| ENST00000695994.1:c.632G>A (ADA) | ENSP00000512317.1:p.Arg211His | |
| ENST00000695995.1:c.242G>A (ADA) | ENSP00000512318.1:p.Arg81His | |
| ENST00000695996.1:n.703G>A (ADA) | ||
| ENST00000696003.1:n.724G>A (ADA) | ||
| ENST00000696004.1:n.724G>A (ADA) | ||
| ENST00000696005.1:c.129-123G>A (ADA) | ||
| ENST00000696006.1:c.607-123G>A (ADA) | ENSP00000512325.1:n.607-123G>A | |
| ENST00000696007.1:c.483G>A (ADA) | ENSP00000512326.1:n.483G>A | |
| ENST00000696008.1:n.2910G>A (ADA) | ||
| ENST00000696017.1:c.629G>A (ADA) | ENSP00000512333.1:p.Arg210His | |
| ENST00000696034.1:c.632G>A (ADA) | ENSP00000512343.1:p.Arg211His | |
| ENST00000696035.1:n.742G>A (ADA) | ||
| ENST00000696036.1:n.1322G>A (ADA) | ||
| ENST00000696037.1:n.2309G>A (ADA) | ||
| ENST00000696038.1:c.*378G>A (ADA) | ENSP00000512344.1:n.*378G>A | |
| ENST00000696039.1:n.920G>A (ADA) | ||
| ENST00000696058.1:c.629G>A (ADA) | ENSP00000512361.1:p.Arg210His | |
| ENST00000696059.1:c.*577G>A (ADA) | ENSP00000512362.1:n.*577G>A | |
| ENST00000696060.1:c.701G>A (ADA) | ENSP00000512363.1:p.Arg234His | |
| ENST00000696061.1:c.629G>A (ADA) | ENSP00000512364.1:p.Arg210His | |
| ENST00000696062.1:c.695G>A (ADA) | ENSP00000512365.1:p.Arg232His | |
| ENST00000696063.1:c.707G>A (ADA) | ENSP00000512366.1:p.Arg236His | |
| ENST00000696064.1:c.479G>A (ADA) | ENSP00000512367.1:p.Arg160His | |
| ENST00000696065.1:c.66-123G>A (ADA) | ENSP00000512368.1:n.66-123G>A | |
| ENST00000696073.1:n.867G>A (ADA) | ||
| ENST00000696074.1:n.248G>A (ADA) | ||
| ENST00000696075.1:c.*602G>A (ADA) | ENSP00000512374.1:n.*602G>A | |
| ENST00000696076.1:c.701G>A (ADA) | ENSP00000512375.1:p.Arg234His | |
| ENST00000696077.1:c.626G>A (ADA) | ENSP00000512376.1:p.Arg209His | |
| ENST00000696078.1:c.629G>A (ADA) | ENSP00000512377.1:p.Arg210His | |
| ENST00000696079.1:c.629G>A (ADA) | ENSP00000512378.1:p.Arg210His | |
| ENST00000696080.1:c.632G>A (ADA) | ENSP00000512379.1:p.Arg211His | |
| ENST00000696081.1:n.751G>A (ADA) | ||
| ENST00000696082.1:c.707G>A (ADA) | ENSP00000512380.1:p.Arg236His | |
| ENST00000696083.1:n.1513G>A (ADA) | ||
| ENST00000696084.1:n.733G>A (ADA) | ||
| ENST00000696104.1:c.363-123G>A (ADA) | ENSP00000512399.1:n.363-123G>A | |
| ENST00000696105.1:c.*173G>A (ADA) | ENSP00000512400.1:n.*173G>A | |
| ENST00000372874.9:c.632G>A (ADA) MANE Select | ENSP00000361965.4:p.Arg211His | |
| ENST00000372874.8:c.632G>A (ADA) | ENSP00000361965.4:p.Arg211His | |
| ENST00000372887.5:c.152-880C>T (PKIG) | ENSP00000361978.1:n.152-880C>T | |
| ENST00000464097.5:n.306G>A (ADA) | ||
| ENST00000492931.5:n.716G>A (ADA) | ||
| ENST00000536532.5:c.632G>A (ADA) | ENSP00000440946.1:p.Arg211His | |
| ENST00000537820.1:c.607-123G>A (ADA) | ENSP00000441818.1:n.607-123G>A | |
| ENST00000539235.5:c.*16G>A (ADA) | ENSP00000446464.1:n.*16G>A | |
| NM_000022.2:c.632G>A , LRG_16t1:c.632G>A (ADA) | NP_000013.2:p.Arg211His | |
| XM_005260236.2:c.607-123G>A (ADA) | XP_005260293.1:n.607-123G>A | |
| XM_011528478.1:c.227G>A (ADA) | XP_011526780.1:p.Arg76His | |
| XM_011528479.1:c.227G>A (ADA) | XP_011526781.1:p.Arg76His | |
| XR_244129.1:n.686G>A (ADA) | ||
| NM_000022.3:c.632G>A (ADA) | NP_000013.2:p.Arg211His | |
| NM_001322050.1:c.227G>A (ADA) | NP_001308979.1:p.Arg76His | |
| NM_001322051.1:c.607-123G>A (ADA) | NP_001308980.1:n.607-123G>A | |
| NR_136160.1:n.783G>A (ADA) | ||
| NM_000022.4:c.632G>A (ADA) MANE Select | NP_000013.2:p.Arg211His | |
| NM_001322050.2:c.227G>A (ADA) | NP_001308979.1:p.Arg76His | |
| NM_001322051.2:c.607-123G>A (ADA) | NP_001308980.1:n.607-123G>A | |
| NR_136160.2:n.724G>A (ADA) |