Linked Data
ClinVar Variation Id:
1352394
ClinVar RCV Id:
RCV002047570
dbSNP Id:
rs758501653
ExAC:
20:43249690 A / G
gnomAD v2:
20-43249690-A-G
gnomAD v4:
20-44621049-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44621049A>G , CM000682.2:g.44621049A>G | GRCh38 |
| NC_000020.10:g.43249690A>G , CM000682.1:g.43249690A>G | GRCh37 |
| NC_000020.9:g.42683104A>G | NCBI36 |
| NG_007385.1:g.35687T>C , LRG_16:g.35687T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.1111T>C (ADA) | ||
| ENST00000536076.2:c.791T>C (ADA) | ENSP00000512234.1:p.Met264Thr | |
| ENST00000536532.6:c.*87T>C (ADA) | ENSP00000440946.1:n.*87T>C | |
| ENST00000537820.2:c.872T>C (ADA) | ENSP00000441818.1:p.Met291Thr | |
| ENST00000539235.6:c.*328T>C (ADA) | ENSP00000446464.1:n.*328T>C | |
| ENST00000695889.1:c.419T>C (ADA) | ENSP00000512240.1:p.Met140Thr | |
| ENST00000695890.1:n.4439T>C (ADA) | ||
| ENST00000695891.1:c.484T>C (ADA) | ENSP00000512241.1:n.484T>C | |
| ENST00000695927.1:c.1022T>C (ADA) | ENSP00000512270.1:p.Met341Thr | |
| ENST00000695949.1:c.869T>C (ADA) | ENSP00000512281.1:p.Met290Thr | |
| ENST00000695956.1:c.99T>C (ADA) | ||
| ENST00000695957.1:c.*435T>C (ADA) | ENSP00000512286.1:n.*435T>C | |
| ENST00000695991.1:c.482T>C (ADA) | ENSP00000512314.1:p.Met161Thr | |
| ENST00000695992.1:c.*87T>C (ADA) | ENSP00000512315.1:n.*87T>C | |
| ENST00000695993.1:c.944T>C (ADA) | ENSP00000512316.1:p.Met315Thr | |
| ENST00000695994.1:c.*87T>C (ADA) | ENSP00000512317.1:n.*87T>C | |
| ENST00000695995.1:c.554T>C (ADA) | ENSP00000512318.1:p.Met185Thr | |
| ENST00000695996.1:n.1026T>C (ADA) | ||
| ENST00000696003.1:n.2728T>C (ADA) | ||
| ENST00000696004.1:n.1112T>C (ADA) | ||
| ENST00000696005.1:c.394T>C (ADA) | ||
| ENST00000696006.1:c.*87T>C (ADA) | ENSP00000512325.1:n.*87T>C | |
| ENST00000696007.1:c.871T>C (ADA) | ENSP00000512326.1:n.871T>C | |
| ENST00000696008.1:n.3298T>C (ADA) | ||
| ENST00000696017.1:c.941T>C (ADA) | ENSP00000512333.1:p.Met314Thr | |
| ENST00000696034.1:c.*87T>C (ADA) | ENSP00000512343.1:n.*87T>C | |
| ENST00000696035.1:n.1130T>C (ADA) | ||
| ENST00000696036.1:n.1645T>C (ADA) | ||
| ENST00000696037.1:n.2621T>C (ADA) | ||
| ENST00000696038.1:c.*701T>C (ADA) | ENSP00000512344.1:n.*701T>C | |
| ENST00000696039.1:n.1308T>C (ADA) | ||
| ENST00000696058.1:c.941T>C (ADA) | ENSP00000512361.1:p.Met314Thr | |
| ENST00000696059.1:c.*889T>C (ADA) | ENSP00000512362.1:n.*889T>C | |
| ENST00000696060.1:c.1013T>C (ADA) | ENSP00000512363.1:p.Met338Thr | |
| ENST00000696061.1:c.941T>C (ADA) | ENSP00000512364.1:p.Met314Thr | |
| ENST00000696062.1:c.1007T>C (ADA) | ENSP00000512365.1:p.Met336Thr | |
| ENST00000696063.1:c.1019T>C (ADA) | ENSP00000512366.1:p.Met340Thr | |
| ENST00000696064.1:c.791T>C (ADA) | ENSP00000512367.1:p.Met264Thr | |
| ENST00000696065.1:c.266T>C (ADA) | ENSP00000512368.1:p.Met89Thr | |
| ENST00000696072.1:n.299T>C (ADA) | ||
| ENST00000696073.1:n.1255T>C (ADA) | ||
| ENST00000696074.1:n.495T>C (ADA) | ||
| ENST00000696075.1:c.*914T>C (ADA) | ENSP00000512374.1:n.*914T>C | |
| ENST00000696076.1:c.1013T>C (ADA) | ENSP00000512375.1:p.Met338Thr | |
| ENST00000696077.1:c.938T>C (ADA) | ENSP00000512376.1:p.Met313Thr | |
| ENST00000696078.1:c.941T>C (ADA) | ENSP00000512377.1:p.Met314Thr | |
| ENST00000696079.1:c.941T>C (ADA) | ENSP00000512378.1:p.Met314Thr | |
| ENST00000696080.1:c.944T>C (ADA) | ENSP00000512379.1:p.Met315Thr | |
| ENST00000696081.1:n.1063T>C (ADA) | ||
| ENST00000696082.1:c.1019T>C (ADA) | ENSP00000512380.1:p.Met340Thr | |
| ENST00000696083.1:n.1901T>C (ADA) | ||
| ENST00000696084.1:n.1121T>C (ADA) | ||
| ENST00000696104.1:c.*13T>C (ADA) | ENSP00000512399.1:n.*13T>C | |
| ENST00000372874.9:c.944T>C (ADA) MANE Select | ENSP00000361965.4:p.Met315Thr | |
| ENST00000372874.8:c.944T>C (ADA) | ENSP00000361965.4:p.Met315Thr | |
| ENST00000372887.5:c.152-2884A>G (PKIG) | ENSP00000361978.1:n.152-2884A>G | |
| ENST00000464097.5:n.694T>C (ADA) | ||
| ENST00000492931.5:n.1104T>C (ADA) | ||
| ENST00000536532.5:c.*87T>C (ADA) | ENSP00000440946.1:n.*87T>C | |
| ENST00000537820.1:c.872T>C (ADA) | ENSP00000441818.1:p.Met291Thr | |
| ENST00000539235.5:c.*328T>C (ADA) | ENSP00000446464.1:n.*328T>C | |
| NM_000022.2:c.944T>C , LRG_16t1:c.944T>C (ADA) | NP_000013.2:p.Met315Thr | |
| XM_005260236.2:c.872T>C (ADA) | XP_005260293.1:p.Met291Thr | |
| XM_011528478.1:c.539T>C (ADA) | XP_011526780.1:p.Met180Thr | |
| XM_011528479.1:c.539T>C (ADA) | XP_011526781.1:p.Met180Thr | |
| XR_244129.1:n.933T>C (ADA) | ||
| NM_000022.3:c.944T>C (ADA) | NP_000013.2:p.Met315Thr | |
| NM_001322050.1:c.539T>C (ADA) | NP_001308979.1:p.Met180Thr | |
| NM_001322051.1:c.872T>C (ADA) | NP_001308980.1:p.Met291Thr | |
| NR_136160.1:n.1030T>C (ADA) | ||
| NM_000022.4:c.944T>C (ADA) MANE Select | NP_000013.2:p.Met315Thr | |
| NM_001322050.2:c.539T>C (ADA) | NP_001308979.1:p.Met180Thr | |
| NM_001322051.2:c.872T>C (ADA) | NP_001308980.1:p.Met291Thr | |
| NR_136160.2:n.971T>C (ADA) |