Linked Data
ClinVar Variation Id:
1959
dbSNP Id:
rs121908715
ExAC:
20:43249032 G / A
gnomAD v2:
20-43249032-G-A
gnomAD v3:
20-44620391-G-A
gnomAD v4:
20-44620391-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44620391G>A , CM000682.2:g.44620391G>A | GRCh38 |
| NC_000020.10:g.43249032G>A , CM000682.1:g.43249032G>A | GRCh37 |
| NC_000020.9:g.42682446G>A | NCBI36 |
| NG_007385.1:g.36345C>T , LRG_16:g.36345C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.1153C>T (ADA) | ||
| ENST00000536076.2:c.833C>T (ADA) | ENSP00000512234.1:p.Ala278Val | |
| ENST00000536532.6:c.*129C>T (ADA) | ENSP00000440946.1:n.*129C>T | |
| ENST00000537820.2:c.914C>T (ADA) | ENSP00000441818.1:p.Ala305Val | |
| ENST00000539235.6:c.*370C>T (ADA) | ENSP00000446464.1:n.*370C>T | |
| ENST00000695889.1:c.461C>T (ADA) | ENSP00000512240.1:p.Ala154Val | |
| ENST00000695890.1:n.5097C>T (ADA) | ||
| ENST00000695891.1:c.526C>T (ADA) | ENSP00000512241.1:n.526C>T | |
| ENST00000695927.1:c.1064C>T (ADA) | ENSP00000512270.1:p.Ala355Val | |
| ENST00000695949.1:c.911C>T (ADA) | ENSP00000512281.1:p.Ala304Val | |
| ENST00000695956.1:c.141C>T (ADA) | ||
| ENST00000695957.1:c.*477C>T (ADA) | ENSP00000512286.1:n.*477C>T | |
| ENST00000695991.1:c.524C>T (ADA) | ENSP00000512314.1:p.Ala175Val | |
| ENST00000695992.1:c.*129C>T (ADA) | ENSP00000512315.1:n.*129C>T | |
| ENST00000695993.1:c.986C>T (ADA) | ENSP00000512316.1:p.Ala329Val | |
| ENST00000695994.1:c.*129C>T (ADA) | ENSP00000512317.1:n.*129C>T | |
| ENST00000695995.1:c.596C>T (ADA) | ENSP00000512318.1:p.Ala199Val | |
| ENST00000695996.1:n.1068C>T (ADA) | ||
| ENST00000696003.1:n.2770C>T (ADA) | ||
| ENST00000696004.1:n.1770C>T (ADA) | ||
| ENST00000696005.1:c.436C>T (ADA) | ||
| ENST00000696006.1:c.*129C>T (ADA) | ENSP00000512325.1:n.*129C>T | |
| ENST00000696007.1:c.913C>T (ADA) | ENSP00000512326.1:n.913C>T | |
| ENST00000696008.1:n.3340C>T (ADA) | ||
| ENST00000696017.1:c.983C>T (ADA) | ENSP00000512333.1:p.Ala328Val | |
| ENST00000696034.1:c.*129C>T (ADA) | ENSP00000512343.1:n.*129C>T | |
| ENST00000696035.1:n.1172C>T (ADA) | ||
| ENST00000696036.1:n.1687C>T (ADA) | ||
| ENST00000696037.1:n.2663C>T (ADA) | ||
| ENST00000696038.1:c.*743C>T (ADA) | ENSP00000512344.1:n.*743C>T | |
| ENST00000696039.1:n.1350C>T (ADA) | ||
| ENST00000696058.1:c.983C>T (ADA) | ENSP00000512361.1:p.Ala328Val | |
| ENST00000696059.1:c.*931C>T (ADA) | ENSP00000512362.1:n.*931C>T | |
| ENST00000696060.1:c.1055C>T (ADA) | ENSP00000512363.1:p.Ala352Val | |
| ENST00000696061.1:c.983C>T (ADA) | ENSP00000512364.1:p.Ala328Val | |
| ENST00000696062.1:c.1049C>T (ADA) | ENSP00000512365.1:p.Ala350Val | |
| ENST00000696063.1:c.1061C>T (ADA) | ENSP00000512366.1:p.Ala354Val | |
| ENST00000696064.1:c.833C>T (ADA) | ENSP00000512367.1:p.Ala278Val | |
| ENST00000696065.1:c.308C>T (ADA) | ENSP00000512368.1:p.Ala103Val | |
| ENST00000696072.1:n.341C>T (ADA) | ||
| ENST00000696073.1:n.1297C>T (ADA) | ||
| ENST00000696074.1:n.537C>T (ADA) | ||
| ENST00000696075.1:c.*956C>T (ADA) | ENSP00000512374.1:n.*956C>T | |
| ENST00000696076.1:c.1055C>T (ADA) | ENSP00000512375.1:p.Ala352Val | |
| ENST00000696077.1:c.980C>T (ADA) | ENSP00000512376.1:p.Ala327Val | |
| ENST00000696078.1:c.983C>T (ADA) | ENSP00000512377.1:p.Ala328Val | |
| ENST00000696079.1:c.983C>T (ADA) | ENSP00000512378.1:p.Ala328Val | |
| ENST00000696080.1:c.986C>T (ADA) | ENSP00000512379.1:p.Ala329Val | |
| ENST00000696081.1:n.1105C>T (ADA) | ||
| ENST00000696082.1:c.1061C>T (ADA) | ENSP00000512380.1:p.Ala354Val | |
| ENST00000696083.1:n.1943C>T (ADA) | ||
| ENST00000696084.1:n.1163C>T (ADA) | ||
| ENST00000696104.1:c.*55C>T (ADA) | ENSP00000512399.1:n.*55C>T | |
| ENST00000372874.9:c.986C>T (ADA) MANE Select | ENSP00000361965.4:p.Ala329Val | |
| ENST00000372874.8:c.986C>T (ADA) | ENSP00000361965.4:p.Ala329Val | |
| ENST00000372887.5:c.152-3542G>A (PKIG) | ENSP00000361978.1:n.152-3542G>A | |
| ENST00000464097.5:n.1352C>T (ADA) | ||
| ENST00000492931.5:n.1146C>T (ADA) | ||
| ENST00000536532.5:c.*129C>T (ADA) | ENSP00000440946.1:n.*129C>T | |
| ENST00000537820.1:c.914C>T (ADA) | ENSP00000441818.1:p.Ala305Val | |
| ENST00000539235.5:c.*370C>T (ADA) | ENSP00000446464.1:n.*370C>T | |
| NM_000022.2:c.986C>T , LRG_16t1:c.986C>T (ADA) | NP_000013.2:p.Ala329Val | |
| XM_005260236.2:c.914C>T (ADA) | XP_005260293.1:p.Ala305Val | |
| XM_011528478.1:c.581C>T (ADA) | XP_011526780.1:p.Ala194Val | |
| XM_011528479.1:c.581C>T (ADA) | XP_011526781.1:p.Ala194Val | |
| XR_244129.1:n.975C>T (ADA) | ||
| NM_000022.3:c.986C>T (ADA) | NP_000013.2:p.Ala329Val | |
| NM_001322050.1:c.581C>T (ADA) | NP_001308979.1:p.Ala194Val | |
| NM_001322051.1:c.914C>T (ADA) | NP_001308980.1:p.Ala305Val | |
| NR_136160.1:n.1072C>T (ADA) | ||
| NM_000022.4:c.986C>T (ADA) MANE Select | NP_000013.2:p.Ala329Val | |
| NM_001322050.2:c.581C>T (ADA) | NP_001308979.1:p.Ala194Val | |
| NM_001322051.2:c.914C>T (ADA) | NP_001308980.1:p.Ala305Val | |
| NR_136160.2:n.1013C>T (ADA) |