Linked Data
ClinVar Variation Id:
338506
dbSNP Id:
rs777820729
ExAC:
20:43251535 C / T
gnomAD v2:
20-43251535-C-T
gnomAD v3:
20-44622894-C-T
gnomAD v4:
20-44622894-C-T
ERepo:
CA9871547/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44622894C>T , CM000682.2:g.44622894C>T | GRCh38 |
| NC_000020.10:g.43251535C>T , CM000682.1:g.43251535C>T | GRCh37 |
| NC_000020.9:g.42684949C>T | NCBI36 |
| NG_007385.1:g.33842G>A , LRG_16:g.33842G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.882G>A (ADA) | ||
| ENST00000536076.2:c.562G>A (ADA) | ENSP00000512234.1:p.Gly188Ser | |
| ENST00000536532.6:c.715G>A (ADA) | ENSP00000440946.1:p.Gly239Ser | |
| ENST00000537820.2:c.643G>A (ADA) | ENSP00000441818.1:p.Gly215Ser | |
| ENST00000539235.6:c.*99G>A (ADA) | ENSP00000446464.1:n.*99G>A | |
| ENST00000695889.1:c.255G>A (ADA) | ENSP00000512240.1:p.Thr85= | |
| ENST00000695890.1:n.2594G>A (ADA) | ||
| ENST00000695891.1:c.255G>A (ADA) | ENSP00000512241.1:p.Thr85= | |
| ENST00000695927.1:c.793G>A (ADA) | ENSP00000512270.1:p.Gly265Ser | |
| ENST00000695949.1:c.640G>A (ADA) | ENSP00000512281.1:p.Gly214Ser | |
| ENST00000695957.1:c.*206G>A (ADA) | ENSP00000512286.1:n.*206G>A | |
| ENST00000695991.1:c.253G>A (ADA) | ENSP00000512314.1:p.Gly85Ser | |
| ENST00000695992.1:c.715G>A (ADA) | ENSP00000512315.1:p.Gly239Ser | |
| ENST00000695993.1:c.715G>A (ADA) | ENSP00000512316.1:p.Gly239Ser | |
| ENST00000695994.1:c.688G>A (ADA) | ENSP00000512317.1:p.Gly230Ser | |
| ENST00000695995.1:c.325G>A (ADA) | ENSP00000512318.1:p.Gly109Ser | |
| ENST00000695996.1:n.862G>A (ADA) | ||
| ENST00000696003.1:n.883G>A (ADA) | ||
| ENST00000696004.1:n.883G>A (ADA) | ||
| ENST00000696005.1:c.165G>A (ADA) | ||
| ENST00000696006.1:c.643G>A (ADA) | ENSP00000512325.1:p.Gly215Ser | |
| ENST00000696007.1:c.642G>A (ADA) | ENSP00000512326.1:n.642G>A | |
| ENST00000696008.1:n.3069G>A (ADA) | ||
| ENST00000696017.1:c.712G>A (ADA) | ENSP00000512333.1:p.Gly238Ser | |
| ENST00000696034.1:c.715G>A (ADA) | ENSP00000512343.1:p.Gly239Ser | |
| ENST00000696035.1:n.901G>A (ADA) | ||
| ENST00000696036.1:n.1481G>A (ADA) | ||
| ENST00000696037.1:n.2392G>A (ADA) | ||
| ENST00000696038.1:c.*537G>A (ADA) | ENSP00000512344.1:n.*537G>A | |
| ENST00000696039.1:n.1079G>A (ADA) | ||
| ENST00000696058.1:c.712G>A (ADA) | ENSP00000512361.1:p.Gly238Ser | |
| ENST00000696059.1:c.*660G>A (ADA) | ENSP00000512362.1:n.*660G>A | |
| ENST00000696060.1:c.784G>A (ADA) | ENSP00000512363.1:p.Gly262Ser | |
| ENST00000696061.1:c.712G>A (ADA) | ENSP00000512364.1:p.Gly238Ser | |
| ENST00000696062.1:c.778G>A (ADA) | ENSP00000512365.1:p.Gly260Ser | |
| ENST00000696063.1:c.790G>A (ADA) | ENSP00000512366.1:p.Gly264Ser | |
| ENST00000696064.1:c.562G>A (ADA) | ENSP00000512367.1:p.Gly188Ser | |
| ENST00000696065.1:c.102G>A (ADA) | ENSP00000512368.1:p.Thr34= | |
| ENST00000696073.1:n.1026G>A (ADA) | ||
| ENST00000696074.1:n.331G>A (ADA) | ||
| ENST00000696075.1:c.*685G>A (ADA) | ENSP00000512374.1:n.*685G>A | |
| ENST00000696076.1:c.784G>A (ADA) | ENSP00000512375.1:p.Gly262Ser | |
| ENST00000696077.1:c.709G>A (ADA) | ENSP00000512376.1:p.Gly237Ser | |
| ENST00000696078.1:c.712G>A (ADA) | ENSP00000512377.1:p.Gly238Ser | |
| ENST00000696079.1:c.712G>A (ADA) | ENSP00000512378.1:p.Gly238Ser | |
| ENST00000696080.1:c.715G>A (ADA) | ENSP00000512379.1:p.Gly239Ser | |
| ENST00000696081.1:n.834G>A (ADA) | ||
| ENST00000696082.1:c.790G>A (ADA) | ENSP00000512380.1:p.Gly264Ser | |
| ENST00000696083.1:n.1672G>A (ADA) | ||
| ENST00000696084.1:n.892G>A (ADA) | ||
| ENST00000696104.1:c.399G>A (ADA) | ENSP00000512399.1:p.Thr133= | |
| ENST00000372874.9:c.715G>A (ADA) MANE Select | ENSP00000361965.4:p.Gly239Ser | |
| ENST00000372874.8:c.715G>A (ADA) | ENSP00000361965.4:p.Gly239Ser | |
| ENST00000372887.5:c.152-1039C>T (PKIG) | ENSP00000361978.1:n.152-1039C>T | |
| ENST00000464097.5:n.465G>A (ADA) | ||
| ENST00000492931.5:n.875G>A (ADA) | ||
| ENST00000536532.5:c.715G>A (ADA) | ENSP00000440946.1:p.Gly239Ser | |
| ENST00000537820.1:c.643G>A (ADA) | ENSP00000441818.1:p.Gly215Ser | |
| ENST00000539235.5:c.*99G>A (ADA) | ENSP00000446464.1:n.*99G>A | |
| NM_000022.2:c.715G>A , LRG_16t1:c.715G>A (ADA) | NP_000013.2:p.Gly239Ser | |
| XM_005260236.2:c.643G>A (ADA) | XP_005260293.1:p.Gly215Ser | |
| XM_011528478.1:c.310G>A (ADA) | XP_011526780.1:p.Gly104Ser | |
| XM_011528479.1:c.310G>A (ADA) | XP_011526781.1:p.Gly104Ser | |
| XR_244129.1:n.769G>A (ADA) | ||
| NM_000022.3:c.715G>A (ADA) | NP_000013.2:p.Gly239Ser | |
| NM_001322050.1:c.310G>A (ADA) | NP_001308979.1:p.Gly104Ser | |
| NM_001322051.1:c.643G>A (ADA) | NP_001308980.1:p.Gly215Ser | |
| NR_136160.1:n.866G>A (ADA) | ||
| NM_000022.4:c.715G>A (ADA) MANE Select | NP_000013.2:p.Gly239Ser | |
| NM_001322050.2:c.310G>A (ADA) | NP_001308979.1:p.Gly104Ser | |
| NM_001322051.2:c.643G>A (ADA) | NP_001308980.1:p.Gly215Ser | |
| NR_136160.2:n.807G>A (ADA) |