Linked Data
ClinVar Variation Id:
2050660
ClinVar RCV Id:
RCV002904551
dbSNP Id:
rs121908734
gnomAD v2:
20-43252853-T-C
gnomAD v4:
20-44624212-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624212T>C , CM000682.2:g.44624212T>C | GRCh38 |
| NC_000020.10:g.43252853T>C , CM000682.1:g.43252853T>C | GRCh37 |
| NC_000020.9:g.42686267T>C | NCBI36 |
| NG_007385.1:g.32524A>G , LRG_16:g.32524A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.687A>G (ADA) | ||
| ENST00000536076.2:c.443A>G (ADA) | ENSP00000512234.1:p.Gln148Arg | |
| ENST00000536532.6:c.596A>G (ADA) | ENSP00000440946.1:p.Gln199Arg | |
| ENST00000537820.2:c.596A>G (ADA) | ENSP00000441818.1:p.Gln199Arg | |
| ENST00000539235.6:c.219-1134A>G (ADA) | ENSP00000446464.1:n.219-1134A>G | |
| ENST00000695889.1:c.219-1282A>G (ADA) | ENSP00000512240.1:n.219-1282A>G | |
| ENST00000695890.1:n.2399A>G (ADA) | ||
| ENST00000695891.1:c.219-1282A>G (ADA) | ENSP00000512241.1:n.219-1282A>G | |
| ENST00000695927.1:c.674A>G (ADA) | ENSP00000512270.1:p.Gln225Arg | |
| ENST00000695949.1:c.593A>G (ADA) | ENSP00000512281.1:p.Gln198Arg | |
| ENST00000695957.1:c.*87A>G (ADA) | ENSP00000512286.1:n.*87A>G | |
| ENST00000695991.1:c.217-1282A>G (ADA) | ENSP00000512314.1:n.217-1282A>G | |
| ENST00000695992.1:c.596A>G (ADA) | ENSP00000512315.1:p.Gln199Arg | |
| ENST00000695993.1:c.596A>G (ADA) | ENSP00000512316.1:p.Gln199Arg | |
| ENST00000695994.1:c.596A>G (ADA) | ENSP00000512317.1:p.Gln199Arg | |
| ENST00000695995.1:c.217-1134A>G (ADA) | ENSP00000512318.1:n.217-1134A>G | |
| ENST00000695996.1:n.667A>G (ADA) | ||
| ENST00000695997.1:n.551A>G (ADA) | ||
| ENST00000696003.1:n.688A>G (ADA) | ||
| ENST00000696004.1:n.688A>G (ADA) | ||
| ENST00000696005.1:c.118A>G (ADA) | ||
| ENST00000696006.1:c.596A>G (ADA) | ENSP00000512325.1:p.Gln199Arg | |
| ENST00000696007.1:c.447A>G (ADA) | ENSP00000512326.1:n.447A>G | |
| ENST00000696008.1:n.1751A>G (ADA) | ||
| ENST00000696009.1:n.1946A>G (ADA) | ||
| ENST00000696017.1:c.593A>G (ADA) | ENSP00000512333.1:p.Gln198Arg | |
| ENST00000696034.1:c.596A>G (ADA) | ENSP00000512343.1:p.Gln199Arg | |
| ENST00000696035.1:n.706A>G (ADA) | ||
| ENST00000696036.1:n.1286A>G (ADA) | ||
| ENST00000696037.1:n.2273A>G (ADA) | ||
| ENST00000696038.1:c.*342A>G (ADA) | ENSP00000512344.1:n.*342A>G | |
| ENST00000696039.1:n.884A>G (ADA) | ||
| ENST00000696058.1:c.596A>G (ADA) | ENSP00000512361.1:p.Gln199Arg | |
| ENST00000696059.1:c.*541A>G (ADA) | ENSP00000512362.1:n.*541A>G | |
| ENST00000696060.1:c.596A>G (ADA) | ENSP00000512363.1:p.Gln199Arg | |
| ENST00000696061.1:c.593A>G (ADA) | ENSP00000512364.1:p.Gln198Arg | |
| ENST00000696062.1:c.659A>G (ADA) | ENSP00000512365.1:p.Gln220Arg | |
| ENST00000696063.1:c.671A>G (ADA) | ENSP00000512366.1:p.Gln224Arg | |
| ENST00000696064.1:c.443A>G (ADA) | ENSP00000512367.1:p.Gln148Arg | |
| ENST00000696065.1:c.66-1282A>G (ADA) | ENSP00000512368.1:n.66-1282A>G | |
| ENST00000696074.1:n.212A>G (ADA) | ||
| ENST00000696075.1:c.*566A>G (ADA) | ENSP00000512374.1:n.*566A>G | |
| ENST00000696076.1:c.596A>G (ADA) | ENSP00000512375.1:p.Gln199Arg | |
| ENST00000696077.1:c.593A>G (ADA) | ENSP00000512376.1:p.Gln198Arg | |
| ENST00000696078.1:c.596A>G (ADA) | ENSP00000512377.1:p.Gln199Arg | |
| ENST00000696079.1:c.596A>G (ADA) | ENSP00000512378.1:p.Gln199Arg | |
| ENST00000696080.1:c.596A>G (ADA) | ENSP00000512379.1:p.Gln199Arg | |
| ENST00000696081.1:n.715A>G (ADA) | ||
| ENST00000696082.1:c.674A>G (ADA) | ENSP00000512380.1:p.Gln225Arg | |
| ENST00000696083.1:n.1477A>G (ADA) | ||
| ENST00000696084.1:n.697A>G (ADA) | ||
| ENST00000696104.1:c.363-1282A>G (ADA) | ENSP00000512399.1:n.363-1282A>G | |
| ENST00000696105.1:c.*137A>G (ADA) | ENSP00000512400.1:n.*137A>G | |
| ENST00000372874.9:c.596A>G (ADA) MANE Select | ENSP00000361965.4:p.Gln199Arg | |
| ENST00000372874.8:c.596A>G (ADA) | ENSP00000361965.4:p.Gln199Arg | |
| ENST00000372887.5:c.*236T>C (PKIG) | ENSP00000361978.1:n.*236T>C | |
| ENST00000464097.5:n.270A>G (ADA) | ||
| ENST00000492931.5:n.680A>G (ADA) | ||
| ENST00000536532.5:c.596A>G (ADA) | ENSP00000440946.1:p.Gln199Arg | |
| ENST00000537820.1:c.596A>G (ADA) | ENSP00000441818.1:p.Gln199Arg | |
| ENST00000539235.5:c.219-1134A>G (ADA) | ENSP00000446464.1:n.219-1134A>G | |
| NM_000022.2:c.596A>G , LRG_16t1:c.596A>G (ADA) | NP_000013.2:p.Gln199Arg | |
| XM_005260236.2:c.596A>G (ADA) | XP_005260293.1:p.Gln199Arg | |
| XM_011528478.1:c.191A>G (ADA) | XP_011526780.1:p.Gln64Arg | |
| XM_011528479.1:c.191A>G (ADA) | XP_011526781.1:p.Gln64Arg | |
| XR_244129.1:n.650A>G (ADA) | ||
| NM_000022.3:c.596A>G (ADA) | NP_000013.2:p.Gln199Arg | |
| NM_001322050.1:c.191A>G (ADA) | NP_001308979.1:p.Gln64Arg | |
| NM_001322051.1:c.596A>G (ADA) | NP_001308980.1:p.Gln199Arg | |
| NR_136160.1:n.747A>G (ADA) | ||
| NM_000022.4:c.596A>G (ADA) MANE Select | NP_000013.2:p.Gln199Arg | |
| NM_001322050.2:c.191A>G (ADA) | NP_001308979.1:p.Gln64Arg | |
| NM_001322051.2:c.596A>G (ADA) | NP_001308980.1:p.Gln199Arg | |
| NR_136160.2:n.688A>G (ADA) |