Revel Score:
ENST00000372874 (MANE Select)
0.965
ENST00000537820
0.965
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003474 (AFR)
Genomes Max Group AF
0.00006291 (AFR)
Exomes Max Group AF
0.00000931 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44621121G>A , CM000682.2:g.44621121G>A | GRCh38 |
| NC_000020.10:g.43249762G>A , CM000682.1:g.43249762G>A | GRCh37 |
| NC_000020.9:g.42683176G>A | NCBI36 |
| NG_007385.1:g.35615C>T , LRG_16:g.35615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.1039C>T (ADA) | ||
| ENST00000536076.2:c.719C>T (ADA) | ENSP00000512234.1:p.Ser240Leu | |
| ENST00000536532.6:c.*15C>T (ADA) | ENSP00000440946.1:n.*15C>T | |
| ENST00000537820.2:c.800C>T (ADA) | ENSP00000441818.1:p.Ser267Leu | |
| ENST00000539235.6:c.*256C>T (ADA) | ENSP00000446464.1:n.*256C>T | |
| ENST00000695889.1:c.347C>T (ADA) | ENSP00000512240.1:p.Ser116Leu | |
| ENST00000695890.1:n.4367C>T (ADA) | ||
| ENST00000695891.1:c.412C>T (ADA) | ENSP00000512241.1:p.Arg138Cys | |
| ENST00000695927.1:c.950C>T (ADA) | ENSP00000512270.1:p.Ser317Leu | |
| ENST00000695949.1:c.797C>T (ADA) | ENSP00000512281.1:p.Ser266Leu | |
| ENST00000695956.1:c.27C>T (ADA) | ||
| ENST00000695957.1:c.*363C>T (ADA) | ENSP00000512286.1:n.*363C>T | |
| ENST00000695991.1:c.410C>T (ADA) | ENSP00000512314.1:p.Ser137Leu | |
| ENST00000695992.1:c.*15C>T (ADA) | ENSP00000512315.1:n.*15C>T | |
| ENST00000695993.1:c.872C>T (ADA) | ENSP00000512316.1:p.Ser291Leu | |
| ENST00000695994.1:c.*15C>T (ADA) | ENSP00000512317.1:n.*15C>T | |
| ENST00000695995.1:c.482C>T (ADA) | ENSP00000512318.1:p.Ser161Leu | |
| ENST00000695996.1:n.954C>T (ADA) | ||
| ENST00000696003.1:n.2656C>T (ADA) | ||
| ENST00000696004.1:n.1040C>T (ADA) | ||
| ENST00000696005.1:c.322C>T (ADA) | ||
| ENST00000696006.1:c.*15C>T (ADA) | ENSP00000512325.1:n.*15C>T | |
| ENST00000696007.1:c.799C>T (ADA) | ENSP00000512326.1:n.799C>T | |
| ENST00000696008.1:n.3226C>T (ADA) | ||
| ENST00000696017.1:c.869C>T (ADA) | ENSP00000512333.1:p.Ser290Leu | |
| ENST00000696034.1:c.*15C>T (ADA) | ENSP00000512343.1:n.*15C>T | |
| ENST00000696035.1:n.1058C>T (ADA) | ||
| ENST00000696036.1:n.1573C>T (ADA) | ||
| ENST00000696037.1:n.2549C>T (ADA) | ||
| ENST00000696038.1:c.*629C>T (ADA) | ENSP00000512344.1:n.*629C>T | |
| ENST00000696039.1:n.1236C>T (ADA) | ||
| ENST00000696058.1:c.869C>T (ADA) | ENSP00000512361.1:p.Ser290Leu | |
| ENST00000696059.1:c.*817C>T (ADA) | ENSP00000512362.1:n.*817C>T | |
| ENST00000696060.1:c.941C>T (ADA) | ENSP00000512363.1:p.Ser314Leu | |
| ENST00000696061.1:c.869C>T (ADA) | ENSP00000512364.1:p.Ser290Leu | |
| ENST00000696062.1:c.935C>T (ADA) | ENSP00000512365.1:p.Ser312Leu | |
| ENST00000696063.1:c.947C>T (ADA) | ENSP00000512366.1:p.Ser316Leu | |
| ENST00000696064.1:c.719C>T (ADA) | ENSP00000512367.1:p.Ser240Leu | |
| ENST00000696065.1:c.194C>T (ADA) | ENSP00000512368.1:p.Ser65Leu | |
| ENST00000696072.1:n.227C>T (ADA) | ||
| ENST00000696073.1:n.1183C>T (ADA) | ||
| ENST00000696074.1:n.423C>T (ADA) | ||
| ENST00000696075.1:c.*842C>T (ADA) | ENSP00000512374.1:n.*842C>T | |
| ENST00000696076.1:c.941C>T (ADA) | ENSP00000512375.1:p.Ser314Leu | |
| ENST00000696077.1:c.866C>T (ADA) | ENSP00000512376.1:p.Ser289Leu | |
| ENST00000696078.1:c.869C>T (ADA) | ENSP00000512377.1:p.Ser290Leu | |
| ENST00000696079.1:c.869C>T (ADA) | ENSP00000512378.1:p.Ser290Leu | |
| ENST00000696080.1:c.872C>T (ADA) | ENSP00000512379.1:p.Ser291Leu | |
| ENST00000696081.1:n.991C>T (ADA) | ||
| ENST00000696082.1:c.947C>T (ADA) | ENSP00000512380.1:p.Ser316Leu | |
| ENST00000696083.1:n.1829C>T (ADA) | ||
| ENST00000696084.1:n.1049C>T (ADA) | ||
| ENST00000696104.1:c.556C>T (ADA) | ENSP00000512399.1:p.Arg186Cys | |
| ENST00000372874.9:c.872C>T (ADA) MANE Select | ENSP00000361965.4:p.Ser291Leu | |
| ENST00000372874.8:c.872C>T (ADA) | ENSP00000361965.4:p.Ser291Leu | |
| ENST00000372887.5:c.152-2812G>A (PKIG) | ENSP00000361978.1:n.152-2812G>A | |
| ENST00000464097.5:n.622C>T (ADA) | ||
| ENST00000492931.5:n.1032C>T (ADA) | ||
| ENST00000536532.5:c.*15C>T (ADA) | ENSP00000440946.1:n.*15C>T | |
| ENST00000537820.1:c.800C>T (ADA) | ENSP00000441818.1:p.Ser267Leu | |
| ENST00000539235.5:c.*256C>T (ADA) | ENSP00000446464.1:n.*256C>T | |
| NM_000022.2:c.872C>T , LRG_16t1:c.872C>T (ADA) | NP_000013.2:p.Ser291Leu | |
| XM_005260236.2:c.800C>T (ADA) | XP_005260293.1:p.Ser267Leu | |
| XM_011528478.1:c.467C>T (ADA) | XP_011526780.1:p.Ser156Leu | |
| XM_011528479.1:c.467C>T (ADA) | XP_011526781.1:p.Ser156Leu | |
| XR_244129.1:n.861C>T (ADA) | ||
| NM_000022.3:c.872C>T (ADA) | NP_000013.2:p.Ser291Leu | |
| NM_001322050.1:c.467C>T (ADA) | NP_001308979.1:p.Ser156Leu | |
| NM_001322051.1:c.800C>T (ADA) | NP_001308980.1:p.Ser267Leu | |
| NR_136160.1:n.958C>T (ADA) | ||
| NM_000022.4:c.872C>T (ADA) MANE Select | NP_000013.2:p.Ser291Leu | |
| NM_001322050.2:c.467C>T (ADA) | NP_001308979.1:p.Ser156Leu | |
| NM_001322051.2:c.800C>T (ADA) | NP_001308980.1:p.Ser267Leu | |
| NR_136160.2:n.899C>T (ADA) |