Linked Data
ClinVar Variation Id:
468281
dbSNP Id:
rs778809577
ExAC:
20:43251547 G / A
gnomAD v2:
20-43251547-G-A
gnomAD v3:
20-44622906-G-A
gnomAD v4:
20-44622906-G-A
COSMIC:
COSM5057338
ERepo:
CA9871550/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44622906G>A , CM000682.2:g.44622906G>A | GRCh38 |
| NC_000020.10:g.43251547G>A , CM000682.1:g.43251547G>A | GRCh37 |
| NC_000020.9:g.42684961G>A | NCBI36 |
| NG_007385.1:g.33830C>T , LRG_16:g.33830C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.870C>T (ADA) | ||
| ENST00000536076.2:c.550C>T (ADA) | ENSP00000512234.1:p.Arg184Trp | |
| ENST00000536532.6:c.703C>T (ADA) | ENSP00000440946.1:p.Arg235Trp | |
| ENST00000537820.2:c.631C>T (ADA) | ENSP00000441818.1:p.Arg211Trp | |
| ENST00000539235.6:c.*87C>T (ADA) | ENSP00000446464.1:n.*87C>T | |
| ENST00000695889.1:c.243C>T (ADA) | ENSP00000512240.1:p.Ser81= | |
| ENST00000695890.1:n.2582C>T (ADA) | ||
| ENST00000695891.1:c.243C>T (ADA) | ENSP00000512241.1:p.Ser81= | |
| ENST00000695927.1:c.781C>T (ADA) | ENSP00000512270.1:p.Arg261Trp | |
| ENST00000695949.1:c.628C>T (ADA) | ENSP00000512281.1:p.Arg210Trp | |
| ENST00000695957.1:c.*194C>T (ADA) | ENSP00000512286.1:n.*194C>T | |
| ENST00000695991.1:c.241C>T (ADA) | ENSP00000512314.1:p.Arg81Trp | |
| ENST00000695992.1:c.703C>T (ADA) | ENSP00000512315.1:p.Arg235Trp | |
| ENST00000695993.1:c.703C>T (ADA) | ENSP00000512316.1:p.Arg235Trp | |
| ENST00000695994.1:c.676C>T (ADA) | ENSP00000512317.1:p.Arg226Trp | |
| ENST00000695995.1:c.313C>T (ADA) | ENSP00000512318.1:p.Arg105Trp | |
| ENST00000695996.1:n.850C>T (ADA) | ||
| ENST00000696003.1:n.871C>T (ADA) | ||
| ENST00000696004.1:n.871C>T (ADA) | ||
| ENST00000696005.1:c.153C>T (ADA) | ||
| ENST00000696006.1:c.631C>T (ADA) | ENSP00000512325.1:p.Arg211Trp | |
| ENST00000696007.1:c.630C>T (ADA) | ENSP00000512326.1:n.630C>T | |
| ENST00000696008.1:n.3057C>T (ADA) | ||
| ENST00000696017.1:c.700C>T (ADA) | ENSP00000512333.1:p.Arg234Trp | |
| ENST00000696034.1:c.703C>T (ADA) | ENSP00000512343.1:p.Arg235Trp | |
| ENST00000696035.1:n.889C>T (ADA) | ||
| ENST00000696036.1:n.1469C>T (ADA) | ||
| ENST00000696037.1:n.2380C>T (ADA) | ||
| ENST00000696038.1:c.*525C>T (ADA) | ENSP00000512344.1:n.*525C>T | |
| ENST00000696039.1:n.1067C>T (ADA) | ||
| ENST00000696058.1:c.700C>T (ADA) | ENSP00000512361.1:p.Arg234Trp | |
| ENST00000696059.1:c.*648C>T (ADA) | ENSP00000512362.1:n.*648C>T | |
| ENST00000696060.1:c.772C>T (ADA) | ENSP00000512363.1:p.Arg258Trp | |
| ENST00000696061.1:c.700C>T (ADA) | ENSP00000512364.1:p.Arg234Trp | |
| ENST00000696062.1:c.766C>T (ADA) | ENSP00000512365.1:p.Arg256Trp | |
| ENST00000696063.1:c.778C>T (ADA) | ENSP00000512366.1:p.Arg260Trp | |
| ENST00000696064.1:c.550C>T (ADA) | ENSP00000512367.1:p.Arg184Trp | |
| ENST00000696065.1:c.90C>T (ADA) | ENSP00000512368.1:p.Ser30= | |
| ENST00000696073.1:n.1014C>T (ADA) | ||
| ENST00000696074.1:n.319C>T (ADA) | ||
| ENST00000696075.1:c.*673C>T (ADA) | ENSP00000512374.1:n.*673C>T | |
| ENST00000696076.1:c.772C>T (ADA) | ENSP00000512375.1:p.Arg258Trp | |
| ENST00000696077.1:c.697C>T (ADA) | ENSP00000512376.1:p.Arg233Trp | |
| ENST00000696078.1:c.700C>T (ADA) | ENSP00000512377.1:p.Arg234Trp | |
| ENST00000696079.1:c.700C>T (ADA) | ENSP00000512378.1:p.Arg234Trp | |
| ENST00000696080.1:c.703C>T (ADA) | ENSP00000512379.1:p.Arg235Trp | |
| ENST00000696081.1:n.822C>T (ADA) | ||
| ENST00000696082.1:c.778C>T (ADA) | ENSP00000512380.1:p.Arg260Trp | |
| ENST00000696083.1:n.1660C>T (ADA) | ||
| ENST00000696084.1:n.880C>T (ADA) | ||
| ENST00000696104.1:c.387C>T (ADA) | ENSP00000512399.1:p.Ser129= | |
| ENST00000372874.9:c.703C>T (ADA) MANE Select | ENSP00000361965.4:p.Arg235Trp | |
| ENST00000372874.8:c.703C>T (ADA) | ENSP00000361965.4:p.Arg235Trp | |
| ENST00000372887.5:c.152-1027G>A (PKIG) | ENSP00000361978.1:n.152-1027G>A | |
| ENST00000464097.5:n.453C>T (ADA) | ||
| ENST00000492931.5:n.863C>T (ADA) | ||
| ENST00000536532.5:c.703C>T (ADA) | ENSP00000440946.1:p.Arg235Trp | |
| ENST00000537820.1:c.631C>T (ADA) | ENSP00000441818.1:p.Arg211Trp | |
| ENST00000539235.5:c.*87C>T (ADA) | ENSP00000446464.1:n.*87C>T | |
| NM_000022.2:c.703C>T , LRG_16t1:c.703C>T (ADA) | NP_000013.2:p.Arg235Trp | |
| XM_005260236.2:c.631C>T (ADA) | XP_005260293.1:p.Arg211Trp | |
| XM_011528478.1:c.298C>T (ADA) | XP_011526780.1:p.Arg100Trp | |
| XM_011528479.1:c.298C>T (ADA) | XP_011526781.1:p.Arg100Trp | |
| XR_244129.1:n.757C>T (ADA) | ||
| NM_000022.3:c.703C>T (ADA) | NP_000013.2:p.Arg235Trp | |
| NM_001322050.1:c.298C>T (ADA) | NP_001308979.1:p.Arg100Trp | |
| NM_001322051.1:c.631C>T (ADA) | NP_001308980.1:p.Arg211Trp | |
| NR_136160.1:n.854C>T (ADA) | ||
| NM_000022.4:c.703C>T (ADA) MANE Select | NP_000013.2:p.Arg235Trp | |
| NM_001322050.2:c.298C>T (ADA) | NP_001308979.1:p.Arg100Trp | |
| NM_001322051.2:c.631C>T (ADA) | NP_001308980.1:p.Arg211Trp | |
| NR_136160.2:n.795C>T (ADA) |