Linked Data
ClinVar Variation Id:
1195941
ClinVar RCV Id:
RCV001559239
dbSNP Id:
rs79249850
ExAC:
20:43249697 G / A
gnomAD v2:
20-43249697-G-A
gnomAD v3:
20-44621056-G-A
gnomAD v4:
20-44621056-G-A
ERepo:
CA9871463/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44621056G>A , CM000682.2:g.44621056G>A | GRCh38 |
| NC_000020.10:g.43249697G>A , CM000682.1:g.43249697G>A | GRCh37 |
| NC_000020.9:g.42683111G>A | NCBI36 |
| NG_007385.1:g.35680C>T , LRG_16:g.35680C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.1104C>T (ADA) | ||
| ENST00000536076.2:c.784C>T (ADA) | ENSP00000512234.1:p.Arg262Trp | |
| ENST00000536532.6:c.*80C>T (ADA) | ENSP00000440946.1:n.*80C>T | |
| ENST00000537820.2:c.865C>T (ADA) | ENSP00000441818.1:p.Arg289Trp | |
| ENST00000539235.6:c.*321C>T (ADA) | ENSP00000446464.1:n.*321C>T | |
| ENST00000695889.1:c.412C>T (ADA) | ENSP00000512240.1:p.Arg138Trp | |
| ENST00000695890.1:n.4432C>T (ADA) | ||
| ENST00000695891.1:c.477C>T (ADA) | ENSP00000512241.1:n.477C>T | |
| ENST00000695927.1:c.1015C>T (ADA) | ENSP00000512270.1:p.Arg339Trp | |
| ENST00000695949.1:c.862C>T (ADA) | ENSP00000512281.1:p.Arg288Trp | |
| ENST00000695956.1:c.92C>T (ADA) | ||
| ENST00000695957.1:c.*428C>T (ADA) | ENSP00000512286.1:n.*428C>T | |
| ENST00000695991.1:c.475C>T (ADA) | ENSP00000512314.1:p.Arg159Trp | |
| ENST00000695992.1:c.*80C>T (ADA) | ENSP00000512315.1:n.*80C>T | |
| ENST00000695993.1:c.937C>T (ADA) | ENSP00000512316.1:p.Arg313Trp | |
| ENST00000695994.1:c.*80C>T (ADA) | ENSP00000512317.1:n.*80C>T | |
| ENST00000695995.1:c.547C>T (ADA) | ENSP00000512318.1:p.Arg183Trp | |
| ENST00000695996.1:n.1019C>T (ADA) | ||
| ENST00000696003.1:n.2721C>T (ADA) | ||
| ENST00000696004.1:n.1105C>T (ADA) | ||
| ENST00000696005.1:c.387C>T (ADA) | ||
| ENST00000696006.1:c.*80C>T (ADA) | ENSP00000512325.1:n.*80C>T | |
| ENST00000696007.1:c.864C>T (ADA) | ENSP00000512326.1:n.864C>T | |
| ENST00000696008.1:n.3291C>T (ADA) | ||
| ENST00000696017.1:c.934C>T (ADA) | ENSP00000512333.1:p.Arg312Trp | |
| ENST00000696034.1:c.*80C>T (ADA) | ENSP00000512343.1:n.*80C>T | |
| ENST00000696035.1:n.1123C>T (ADA) | ||
| ENST00000696036.1:n.1638C>T (ADA) | ||
| ENST00000696037.1:n.2614C>T (ADA) | ||
| ENST00000696038.1:c.*694C>T (ADA) | ENSP00000512344.1:n.*694C>T | |
| ENST00000696039.1:n.1301C>T (ADA) | ||
| ENST00000696058.1:c.934C>T (ADA) | ENSP00000512361.1:p.Arg312Trp | |
| ENST00000696059.1:c.*882C>T (ADA) | ENSP00000512362.1:n.*882C>T | |
| ENST00000696060.1:c.1006C>T (ADA) | ENSP00000512363.1:p.Arg336Trp | |
| ENST00000696061.1:c.934C>T (ADA) | ENSP00000512364.1:p.Arg312Trp | |
| ENST00000696062.1:c.1000C>T (ADA) | ENSP00000512365.1:p.Arg334Trp | |
| ENST00000696063.1:c.1012C>T (ADA) | ENSP00000512366.1:p.Arg338Trp | |
| ENST00000696064.1:c.784C>T (ADA) | ENSP00000512367.1:p.Arg262Trp | |
| ENST00000696065.1:c.259C>T (ADA) | ENSP00000512368.1:p.Arg87Trp | |
| ENST00000696072.1:n.292C>T (ADA) | ||
| ENST00000696073.1:n.1248C>T (ADA) | ||
| ENST00000696074.1:n.488C>T (ADA) | ||
| ENST00000696075.1:c.*907C>T (ADA) | ENSP00000512374.1:n.*907C>T | |
| ENST00000696076.1:c.1006C>T (ADA) | ENSP00000512375.1:p.Arg336Trp | |
| ENST00000696077.1:c.931C>T (ADA) | ENSP00000512376.1:p.Arg311Trp | |
| ENST00000696078.1:c.934C>T (ADA) | ENSP00000512377.1:p.Arg312Trp | |
| ENST00000696079.1:c.934C>T (ADA) | ENSP00000512378.1:p.Arg312Trp | |
| ENST00000696080.1:c.937C>T (ADA) | ENSP00000512379.1:p.Arg313Trp | |
| ENST00000696081.1:n.1056C>T (ADA) | ||
| ENST00000696082.1:c.1012C>T (ADA) | ENSP00000512380.1:p.Arg338Trp | |
| ENST00000696083.1:n.1894C>T (ADA) | ||
| ENST00000696084.1:n.1114C>T (ADA) | ||
| ENST00000696104.1:c.*6C>T (ADA) | ENSP00000512399.1:n.*6C>T | |
| ENST00000372874.9:c.937C>T (ADA) MANE Select | ENSP00000361965.4:p.Arg313Trp | |
| ENST00000372874.8:c.937C>T (ADA) | ENSP00000361965.4:p.Arg313Trp | |
| ENST00000372887.5:c.152-2877G>A (PKIG) | ENSP00000361978.1:n.152-2877G>A | |
| ENST00000464097.5:n.687C>T (ADA) | ||
| ENST00000492931.5:n.1097C>T (ADA) | ||
| ENST00000536532.5:c.*80C>T (ADA) | ENSP00000440946.1:n.*80C>T | |
| ENST00000537820.1:c.865C>T (ADA) | ENSP00000441818.1:p.Arg289Trp | |
| ENST00000539235.5:c.*321C>T (ADA) | ENSP00000446464.1:n.*321C>T | |
| NM_000022.2:c.937C>T , LRG_16t1:c.937C>T (ADA) | NP_000013.2:p.Arg313Trp | |
| XM_005260236.2:c.865C>T (ADA) | XP_005260293.1:p.Arg289Trp | |
| XM_011528478.1:c.532C>T (ADA) | XP_011526780.1:p.Arg178Trp | |
| XM_011528479.1:c.532C>T (ADA) | XP_011526781.1:p.Arg178Trp | |
| XR_244129.1:n.926C>T (ADA) | ||
| NM_000022.3:c.937C>T (ADA) | NP_000013.2:p.Arg313Trp | |
| NM_001322050.1:c.532C>T (ADA) | NP_001308979.1:p.Arg178Trp | |
| NM_001322051.1:c.865C>T (ADA) | NP_001308980.1:p.Arg289Trp | |
| NR_136160.1:n.1023C>T (ADA) | ||
| NM_000022.4:c.937C>T (ADA) MANE Select | NP_000013.2:p.Arg313Trp | |
| NM_001322050.2:c.532C>T (ADA) | NP_001308979.1:p.Arg178Trp | |
| NM_001322051.2:c.865C>T (ADA) | NP_001308980.1:p.Arg289Trp | |
| NR_136160.2:n.964C>T (ADA) |