gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44622828C>T , CM000682.2:g.44622828C>T | GRCh38 |
| NC_000020.10:g.43251469C>T , CM000682.1:g.43251469C>T | GRCh37 |
| NC_000020.9:g.42684883C>T | NCBI36 |
| NG_007385.1:g.33908G>A , LRG_16:g.33908G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.947+1G>A (ADA) | ||
| ENST00000536076.2:c.627+1G>A (ADA) | ENSP00000512234.1:n.627+1G>A | |
| ENST00000536532.6:c.780+1G>A (ADA) | ENSP00000440946.1:n.780+1G>A | |
| ENST00000537820.2:c.708+1G>A (ADA) | ENSP00000441818.1:n.708+1G>A | |
| ENST00000539235.6:c.*164+1G>A (ADA) | ENSP00000446464.1:n.*164+1G>A | |
| ENST00000695889.1:c.320+1G>A (ADA) | ENSP00000512240.1:n.320+1G>A | |
| ENST00000695890.1:n.2660G>A (ADA) | ||
| ENST00000695891.1:c.320+1G>A (ADA) | ENSP00000512241.1:n.320+1G>A | |
| ENST00000695927.1:c.858+1G>A (ADA) | ENSP00000512270.1:n.858+1G>A | |
| ENST00000695949.1:c.705+1G>A (ADA) | ENSP00000512281.1:n.705+1G>A | |
| ENST00000695957.1:c.*271+1G>A (ADA) | ENSP00000512286.1:n.*271+1G>A | |
| ENST00000695991.1:c.318+1G>A (ADA) | ENSP00000512314.1:n.318+1G>A | |
| ENST00000695992.1:c.780+1G>A (ADA) | ENSP00000512315.1:n.780+1G>A | |
| ENST00000695993.1:c.780+1G>A (ADA) | ENSP00000512316.1:n.780+1G>A | |
| ENST00000695994.1:c.753+1G>A (ADA) | ENSP00000512317.1:n.753+1G>A | |
| ENST00000695995.1:c.390+1G>A (ADA) | ENSP00000512318.1:n.390+1G>A | |
| ENST00000695996.1:n.927+1G>A (ADA) | ||
| ENST00000696003.1:n.949G>A (ADA) | ||
| ENST00000696004.1:n.948+1G>A (ADA) | ||
| ENST00000696005.1:c.230+1G>A (ADA) | ||
| ENST00000696006.1:c.708+1G>A (ADA) | ENSP00000512325.1:n.708+1G>A | |
| ENST00000696007.1:c.707+1G>A (ADA) | ENSP00000512326.1:n.707+1G>A | |
| ENST00000696008.1:n.3134+1G>A (ADA) | ||
| ENST00000696017.1:c.777+1G>A (ADA) | ENSP00000512333.1:n.777+1G>A | |
| ENST00000696034.1:c.780+1G>A (ADA) | ENSP00000512343.1:n.780+1G>A | |
| ENST00000696035.1:n.966+1G>A (ADA) | ||
| ENST00000696036.1:n.1546+1G>A (ADA) | ||
| ENST00000696037.1:n.2457+1G>A (ADA) | ||
| ENST00000696038.1:c.*602+1G>A (ADA) | ENSP00000512344.1:n.*602+1G>A | |
| ENST00000696039.1:n.1144+1G>A (ADA) | ||
| ENST00000696058.1:c.777+1G>A (ADA) | ENSP00000512361.1:n.777+1G>A | |
| ENST00000696059.1:c.*725+1G>A (ADA) | ENSP00000512362.1:n.*725+1G>A | |
| ENST00000696060.1:c.849+1G>A (ADA) | ENSP00000512363.1:n.849+1G>A | |
| ENST00000696061.1:c.777+1G>A (ADA) | ENSP00000512364.1:n.777+1G>A | |
| ENST00000696062.1:c.843+1G>A (ADA) | ENSP00000512365.1:n.843+1G>A | |
| ENST00000696063.1:c.855+1G>A (ADA) | ENSP00000512366.1:n.855+1G>A | |
| ENST00000696064.1:c.627+1G>A (ADA) | ENSP00000512367.1:n.627+1G>A | |
| ENST00000696065.1:c.167+1G>A (ADA) | ENSP00000512368.1:n.167+1G>A | |
| ENST00000696073.1:n.1091+1G>A (ADA) | ||
| ENST00000696074.1:n.396+1G>A (ADA) | ||
| ENST00000696075.1:c.*750+1G>A (ADA) | ENSP00000512374.1:n.*750+1G>A | |
| ENST00000696076.1:c.849+1G>A (ADA) | ENSP00000512375.1:n.849+1G>A | |
| ENST00000696077.1:c.774+1G>A (ADA) | ENSP00000512376.1:n.774+1G>A | |
| ENST00000696078.1:c.777+1G>A (ADA) | ENSP00000512377.1:n.777+1G>A | |
| ENST00000696079.1:c.777+1G>A (ADA) | ENSP00000512378.1:n.777+1G>A | |
| ENST00000696080.1:c.780+1G>A (ADA) | ENSP00000512379.1:n.780+1G>A | |
| ENST00000696081.1:n.899+1G>A (ADA) | ||
| ENST00000696082.1:c.855+1G>A (ADA) | ENSP00000512380.1:n.855+1G>A | |
| ENST00000696083.1:n.1737+1G>A (ADA) | ||
| ENST00000696084.1:n.957+1G>A (ADA) | ||
| ENST00000696104.1:c.464+1G>A (ADA) | ENSP00000512399.1:n.464+1G>A | |
| ENST00000372874.9:c.780+1G>A (ADA) MANE Select | ENSP00000361965.4:n.780+1G>A | |
| ENST00000372874.8:c.780+1G>A (ADA) | ENSP00000361965.4:n.780+1G>A | |
| ENST00000372887.5:c.152-1105C>T (PKIG) | ENSP00000361978.1:n.152-1105C>T | |
| ENST00000464097.5:n.530+1G>A (ADA) | ||
| ENST00000492931.5:n.940+1G>A (ADA) | ||
| ENST00000536532.5:c.780+1G>A (ADA) | ENSP00000440946.1:n.780+1G>A | |
| ENST00000537820.1:c.708+1G>A (ADA) | ENSP00000441818.1:n.708+1G>A | |
| ENST00000539235.5:c.*164+1G>A (ADA) | ENSP00000446464.1:n.*164+1G>A | |
| NM_000022.2:c.780+1G>A , LRG_16t1:c.780+1G>A (ADA) | NP_000013.2:n.780+1G>A | |
| XM_005260236.2:c.708+1G>A (ADA) | XP_005260293.1:n.708+1G>A | |
| XM_011528478.1:c.375+1G>A (ADA) | XP_011526780.1:n.375+1G>A | |
| XM_011528479.1:c.375+1G>A (ADA) | XP_011526781.1:n.375+1G>A | |
| XR_244129.1:n.834+1G>A (ADA) | ||
| NM_000022.3:c.780+1G>A (ADA) | NP_000013.2:n.780+1G>A | |
| NM_001322050.1:c.375+1G>A (ADA) | NP_001308979.1:n.375+1G>A | |
| NM_001322051.1:c.708+1G>A (ADA) | NP_001308980.1:n.708+1G>A | |
| NR_136160.1:n.931+1G>A (ADA) | ||
| NM_000022.4:c.780+1G>A (ADA) MANE Select | NP_000013.2:n.780+1G>A | |
| NM_001322050.2:c.375+1G>A (ADA) | NP_001308979.1:n.375+1G>A | |
| NM_001322051.2:c.708+1G>A (ADA) | NP_001308980.1:n.708+1G>A | |
| NR_136160.2:n.872+1G>A (ADA) |