Linked Data
ClinVar Variation Id:
897016
ClinVar RCV Id:
RCV001140048
dbSNP Id:
rs371305751
ExAC:
20:43249735 A / C
gnomAD v2:
20-43249735-A-C
gnomAD v3:
20-44621094-A-C
gnomAD v4:
20-44621094-A-C
ERepo:
CA9871470/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44621094A>C , CM000682.2:g.44621094A>C | GRCh38 |
| NC_000020.10:g.43249735A>C , CM000682.1:g.43249735A>C | GRCh37 |
| NC_000020.9:g.42683149A>C | NCBI36 |
| NG_007385.1:g.35642T>G , LRG_16:g.35642T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.1066T>G (ADA) | ||
| ENST00000536076.2:c.746T>G (ADA) | ENSP00000512234.1:p.Phe249Cys | |
| ENST00000536532.6:c.*42T>G (ADA) | ENSP00000440946.1:n.*42T>G | |
| ENST00000537820.2:c.827T>G (ADA) | ENSP00000441818.1:p.Phe276Cys | |
| ENST00000539235.6:c.*283T>G (ADA) | ENSP00000446464.1:n.*283T>G | |
| ENST00000695889.1:c.374T>G (ADA) | ENSP00000512240.1:p.Phe125Cys | |
| ENST00000695890.1:n.4394T>G (ADA) | ||
| ENST00000695891.1:c.439T>G (ADA) | ENSP00000512241.1:p.Ser147Ala | |
| ENST00000695927.1:c.977T>G (ADA) | ENSP00000512270.1:p.Phe326Cys | |
| ENST00000695949.1:c.824T>G (ADA) | ENSP00000512281.1:p.Phe275Cys | |
| ENST00000695956.1:c.54T>G (ADA) | ||
| ENST00000695957.1:c.*390T>G (ADA) | ENSP00000512286.1:n.*390T>G | |
| ENST00000695991.1:c.437T>G (ADA) | ENSP00000512314.1:p.Phe146Cys | |
| ENST00000695992.1:c.*42T>G (ADA) | ENSP00000512315.1:n.*42T>G | |
| ENST00000695993.1:c.899T>G (ADA) | ENSP00000512316.1:p.Phe300Cys | |
| ENST00000695994.1:c.*42T>G (ADA) | ENSP00000512317.1:n.*42T>G | |
| ENST00000695995.1:c.509T>G (ADA) | ENSP00000512318.1:p.Phe170Cys | |
| ENST00000695996.1:n.981T>G (ADA) | ||
| ENST00000696003.1:n.2683T>G (ADA) | ||
| ENST00000696004.1:n.1067T>G (ADA) | ||
| ENST00000696005.1:c.349T>G (ADA) | ||
| ENST00000696006.1:c.*42T>G (ADA) | ENSP00000512325.1:n.*42T>G | |
| ENST00000696007.1:c.826T>G (ADA) | ENSP00000512326.1:n.826T>G | |
| ENST00000696008.1:n.3253T>G (ADA) | ||
| ENST00000696017.1:c.896T>G (ADA) | ENSP00000512333.1:p.Phe299Cys | |
| ENST00000696034.1:c.*42T>G (ADA) | ENSP00000512343.1:n.*42T>G | |
| ENST00000696035.1:n.1085T>G (ADA) | ||
| ENST00000696036.1:n.1600T>G (ADA) | ||
| ENST00000696037.1:n.2576T>G (ADA) | ||
| ENST00000696038.1:c.*656T>G (ADA) | ENSP00000512344.1:n.*656T>G | |
| ENST00000696039.1:n.1263T>G (ADA) | ||
| ENST00000696058.1:c.896T>G (ADA) | ENSP00000512361.1:p.Phe299Cys | |
| ENST00000696059.1:c.*844T>G (ADA) | ENSP00000512362.1:n.*844T>G | |
| ENST00000696060.1:c.968T>G (ADA) | ENSP00000512363.1:p.Phe323Cys | |
| ENST00000696061.1:c.896T>G (ADA) | ENSP00000512364.1:p.Phe299Cys | |
| ENST00000696062.1:c.962T>G (ADA) | ENSP00000512365.1:p.Phe321Cys | |
| ENST00000696063.1:c.974T>G (ADA) | ENSP00000512366.1:p.Phe325Cys | |
| ENST00000696064.1:c.746T>G (ADA) | ENSP00000512367.1:p.Phe249Cys | |
| ENST00000696065.1:c.221T>G (ADA) | ENSP00000512368.1:p.Phe74Cys | |
| ENST00000696072.1:n.254T>G (ADA) | ||
| ENST00000696073.1:n.1210T>G (ADA) | ||
| ENST00000696074.1:n.450T>G (ADA) | ||
| ENST00000696075.1:c.*869T>G (ADA) | ENSP00000512374.1:n.*869T>G | |
| ENST00000696076.1:c.968T>G (ADA) | ENSP00000512375.1:p.Phe323Cys | |
| ENST00000696077.1:c.893T>G (ADA) | ENSP00000512376.1:p.Phe298Cys | |
| ENST00000696078.1:c.896T>G (ADA) | ENSP00000512377.1:p.Phe299Cys | |
| ENST00000696079.1:c.896T>G (ADA) | ENSP00000512378.1:p.Phe299Cys | |
| ENST00000696080.1:c.899T>G (ADA) | ENSP00000512379.1:p.Phe300Cys | |
| ENST00000696081.1:n.1018T>G (ADA) | ||
| ENST00000696082.1:c.974T>G (ADA) | ENSP00000512380.1:p.Phe325Cys | |
| ENST00000696083.1:n.1856T>G (ADA) | ||
| ENST00000696084.1:n.1076T>G (ADA) | ||
| ENST00000696104.1:c.583T>G (ADA) | ENSP00000512399.1:p.Ser195Ala | |
| ENST00000372874.9:c.899T>G (ADA) MANE Select | ENSP00000361965.4:p.Phe300Cys | |
| ENST00000372874.8:c.899T>G (ADA) | ENSP00000361965.4:p.Phe300Cys | |
| ENST00000372887.5:c.152-2839A>C (PKIG) | ENSP00000361978.1:n.152-2839A>C | |
| ENST00000464097.5:n.649T>G (ADA) | ||
| ENST00000492931.5:n.1059T>G (ADA) | ||
| ENST00000536532.5:c.*42T>G (ADA) | ENSP00000440946.1:n.*42T>G | |
| ENST00000537820.1:c.827T>G (ADA) | ENSP00000441818.1:p.Phe276Cys | |
| ENST00000539235.5:c.*283T>G (ADA) | ENSP00000446464.1:n.*283T>G | |
| NM_000022.2:c.899T>G , LRG_16t1:c.899T>G (ADA) | NP_000013.2:p.Phe300Cys | |
| XM_005260236.2:c.827T>G (ADA) | XP_005260293.1:p.Phe276Cys | |
| XM_011528478.1:c.494T>G (ADA) | XP_011526780.1:p.Phe165Cys | |
| XM_011528479.1:c.494T>G (ADA) | XP_011526781.1:p.Phe165Cys | |
| XR_244129.1:n.888T>G (ADA) | ||
| NM_000022.3:c.899T>G (ADA) | NP_000013.2:p.Phe300Cys | |
| NM_001322050.1:c.494T>G (ADA) | NP_001308979.1:p.Phe165Cys | |
| NM_001322051.1:c.827T>G (ADA) | NP_001308980.1:p.Phe276Cys | |
| NR_136160.1:n.985T>G (ADA) | ||
| NM_000022.4:c.899T>G (ADA) MANE Select | NP_000013.2:p.Phe300Cys | |
| NM_001322050.2:c.494T>G (ADA) | NP_001308979.1:p.Phe165Cys | |
| NM_001322051.2:c.827T>G (ADA) | NP_001308980.1:p.Phe276Cys | |
| NR_136160.2:n.926T>G (ADA) |