Linked Data
ClinVar Variation Id:
1505857
ClinVar RCV Id:
RCV002004261
dbSNP Id:
rs121908718
ExAC:
20:43249744 G / A
gnomAD v2:
20-43249744-G-A
gnomAD v3:
20-44621103-G-A
gnomAD v4:
20-44621103-G-A
ERepo:
CA9871472/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44621103G>A , CM000682.2:g.44621103G>A | GRCh38 |
| NC_000020.10:g.43249744G>A , CM000682.1:g.43249744G>A | GRCh37 |
| NC_000020.9:g.42683158G>A | NCBI36 |
| NG_007385.1:g.35633C>T , LRG_16:g.35633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.1057C>T (ADA) | ||
| ENST00000536076.2:c.737C>T (ADA) | ENSP00000512234.1:p.Pro246Leu | |
| ENST00000536532.6:c.*33C>T (ADA) | ENSP00000440946.1:n.*33C>T | |
| ENST00000537820.2:c.818C>T (ADA) | ENSP00000441818.1:p.Pro273Leu | |
| ENST00000539235.6:c.*274C>T (ADA) | ENSP00000446464.1:n.*274C>T | |
| ENST00000695889.1:c.365C>T (ADA) | ENSP00000512240.1:p.Pro122Leu | |
| ENST00000695890.1:n.4385C>T (ADA) | ||
| ENST00000695891.1:c.430C>T (ADA) | ENSP00000512241.1:p.Arg144Cys | |
| ENST00000695927.1:c.968C>T (ADA) | ENSP00000512270.1:p.Pro323Leu | |
| ENST00000695949.1:c.815C>T (ADA) | ENSP00000512281.1:p.Pro272Leu | |
| ENST00000695956.1:c.45C>T (ADA) | ||
| ENST00000695957.1:c.*381C>T (ADA) | ENSP00000512286.1:n.*381C>T | |
| ENST00000695991.1:c.428C>T (ADA) | ENSP00000512314.1:p.Pro143Leu | |
| ENST00000695992.1:c.*33C>T (ADA) | ENSP00000512315.1:n.*33C>T | |
| ENST00000695993.1:c.890C>T (ADA) | ENSP00000512316.1:p.Pro297Leu | |
| ENST00000695994.1:c.*33C>T (ADA) | ENSP00000512317.1:n.*33C>T | |
| ENST00000695995.1:c.500C>T (ADA) | ENSP00000512318.1:p.Pro167Leu | |
| ENST00000695996.1:n.972C>T (ADA) | ||
| ENST00000696003.1:n.2674C>T (ADA) | ||
| ENST00000696004.1:n.1058C>T (ADA) | ||
| ENST00000696005.1:c.340C>T (ADA) | ||
| ENST00000696006.1:c.*33C>T (ADA) | ENSP00000512325.1:n.*33C>T | |
| ENST00000696007.1:c.817C>T (ADA) | ENSP00000512326.1:n.817C>T | |
| ENST00000696008.1:n.3244C>T (ADA) | ||
| ENST00000696017.1:c.887C>T (ADA) | ENSP00000512333.1:p.Pro296Leu | |
| ENST00000696034.1:c.*33C>T (ADA) | ENSP00000512343.1:n.*33C>T | |
| ENST00000696035.1:n.1076C>T (ADA) | ||
| ENST00000696036.1:n.1591C>T (ADA) | ||
| ENST00000696037.1:n.2567C>T (ADA) | ||
| ENST00000696038.1:c.*647C>T (ADA) | ENSP00000512344.1:n.*647C>T | |
| ENST00000696039.1:n.1254C>T (ADA) | ||
| ENST00000696058.1:c.887C>T (ADA) | ENSP00000512361.1:p.Pro296Leu | |
| ENST00000696059.1:c.*835C>T (ADA) | ENSP00000512362.1:n.*835C>T | |
| ENST00000696060.1:c.959C>T (ADA) | ENSP00000512363.1:p.Pro320Leu | |
| ENST00000696061.1:c.887C>T (ADA) | ENSP00000512364.1:p.Pro296Leu | |
| ENST00000696062.1:c.953C>T (ADA) | ENSP00000512365.1:p.Pro318Leu | |
| ENST00000696063.1:c.965C>T (ADA) | ENSP00000512366.1:p.Pro322Leu | |
| ENST00000696064.1:c.737C>T (ADA) | ENSP00000512367.1:p.Pro246Leu | |
| ENST00000696065.1:c.212C>T (ADA) | ENSP00000512368.1:p.Pro71Leu | |
| ENST00000696072.1:n.245C>T (ADA) | ||
| ENST00000696073.1:n.1201C>T (ADA) | ||
| ENST00000696074.1:n.441C>T (ADA) | ||
| ENST00000696075.1:c.*860C>T (ADA) | ENSP00000512374.1:n.*860C>T | |
| ENST00000696076.1:c.959C>T (ADA) | ENSP00000512375.1:p.Pro320Leu | |
| ENST00000696077.1:c.884C>T (ADA) | ENSP00000512376.1:p.Pro295Leu | |
| ENST00000696078.1:c.887C>T (ADA) | ENSP00000512377.1:p.Pro296Leu | |
| ENST00000696079.1:c.887C>T (ADA) | ENSP00000512378.1:p.Pro296Leu | |
| ENST00000696080.1:c.890C>T (ADA) | ENSP00000512379.1:p.Pro297Leu | |
| ENST00000696081.1:n.1009C>T (ADA) | ||
| ENST00000696082.1:c.965C>T (ADA) | ENSP00000512380.1:p.Pro322Leu | |
| ENST00000696083.1:n.1847C>T (ADA) | ||
| ENST00000696084.1:n.1067C>T (ADA) | ||
| ENST00000696104.1:c.574C>T (ADA) | ENSP00000512399.1:p.Arg192Cys | |
| ENST00000372874.9:c.890C>T (ADA) MANE Select | ENSP00000361965.4:p.Pro297Leu | |
| ENST00000372874.8:c.890C>T (ADA) | ENSP00000361965.4:p.Pro297Leu | |
| ENST00000372887.5:c.152-2830G>A (PKIG) | ENSP00000361978.1:n.152-2830G>A | |
| ENST00000464097.5:n.640C>T (ADA) | ||
| ENST00000492931.5:n.1050C>T (ADA) | ||
| ENST00000536532.5:c.*33C>T (ADA) | ENSP00000440946.1:n.*33C>T | |
| ENST00000537820.1:c.818C>T (ADA) | ENSP00000441818.1:p.Pro273Leu | |
| ENST00000539235.5:c.*274C>T (ADA) | ENSP00000446464.1:n.*274C>T | |
| NM_000022.2:c.890C>T , LRG_16t1:c.890C>T (ADA) | NP_000013.2:p.Pro297Leu | |
| XM_005260236.2:c.818C>T (ADA) | XP_005260293.1:p.Pro273Leu | |
| XM_011528478.1:c.485C>T (ADA) | XP_011526780.1:p.Pro162Leu | |
| XM_011528479.1:c.485C>T (ADA) | XP_011526781.1:p.Pro162Leu | |
| XR_244129.1:n.879C>T (ADA) | ||
| NM_000022.3:c.890C>T (ADA) | NP_000013.2:p.Pro297Leu | |
| NM_001322050.1:c.485C>T (ADA) | NP_001308979.1:p.Pro162Leu | |
| NM_001322051.1:c.818C>T (ADA) | NP_001308980.1:p.Pro273Leu | |
| NR_136160.1:n.976C>T (ADA) | ||
| NM_000022.4:c.890C>T (ADA) MANE Select | NP_000013.2:p.Pro297Leu | |
| NM_001322050.2:c.485C>T (ADA) | NP_001308979.1:p.Pro162Leu | |
| NM_001322051.2:c.818C>T (ADA) | NP_001308980.1:p.Pro273Leu | |
| NR_136160.2:n.917C>T (ADA) |