Linked Data
ClinVar Variation Id:
1964
dbSNP Id:
rs121908738
ExAC:
20:43251253 G / A
gnomAD v2:
20-43251253-G-A
gnomAD v3:
20-44622612-G-A
gnomAD v4:
20-44622612-G-A
PubMed:
PMID:2166947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44622612G>A , CM000682.2:g.44622612G>A | GRCh38 |
| NC_000020.10:g.43251253G>A , CM000682.1:g.43251253G>A | GRCh37 |
| NC_000020.9:g.42684667G>A | NCBI36 |
| NG_007385.1:g.34124C>T , LRG_16:g.34124C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.988C>T (ADA) | ||
| ENST00000536076.2:c.668C>T (ADA) | ENSP00000512234.1:p.Pro223Leu | |
| ENST00000536532.6:c.780+217C>T (ADA) | ENSP00000440946.1:n.780+217C>T | |
| ENST00000537820.2:c.749C>T (ADA) | ENSP00000441818.1:p.Pro250Leu | |
| ENST00000539235.6:c.*205C>T (ADA) | ENSP00000446464.1:n.*205C>T | |
| ENST00000695889.1:c.320+217C>T (ADA) | ENSP00000512240.1:n.320+217C>T | |
| ENST00000695890.1:n.2876C>T (ADA) | ||
| ENST00000695891.1:c.361C>T (ADA) | ENSP00000512241.1:p.Arg121Trp | |
| ENST00000695927.1:c.899C>T (ADA) | ENSP00000512270.1:p.Pro300Leu | |
| ENST00000695949.1:c.746C>T (ADA) | ENSP00000512281.1:p.Pro249Leu | |
| ENST00000695957.1:c.*312C>T (ADA) | ENSP00000512286.1:n.*312C>T | |
| ENST00000695991.1:c.359C>T (ADA) | ENSP00000512314.1:p.Pro120Leu | |
| ENST00000695992.1:c.780+217C>T (ADA) | ENSP00000512315.1:n.780+217C>T | |
| ENST00000695993.1:c.821C>T (ADA) | ENSP00000512316.1:p.Pro274Leu | |
| ENST00000695994.1:c.753+217C>T (ADA) | ENSP00000512317.1:n.753+217C>T | |
| ENST00000695995.1:c.431C>T (ADA) | ENSP00000512318.1:p.Pro144Leu | |
| ENST00000695996.1:n.927+217C>T (ADA) | ||
| ENST00000696003.1:n.1165C>T (ADA) | ||
| ENST00000696004.1:n.989C>T (ADA) | ||
| ENST00000696005.1:c.271C>T (ADA) | ||
| ENST00000696006.1:c.708+217C>T (ADA) | ENSP00000512325.1:n.708+217C>T | |
| ENST00000696007.1:c.748C>T (ADA) | ENSP00000512326.1:n.748C>T | |
| ENST00000696008.1:n.3175C>T (ADA) | ||
| ENST00000696017.1:c.818C>T (ADA) | ENSP00000512333.1:p.Pro273Leu | |
| ENST00000696034.1:c.780+217C>T (ADA) | ENSP00000512343.1:n.780+217C>T | |
| ENST00000696035.1:n.1007C>T (ADA) | ||
| ENST00000696036.1:n.1546+217C>T (ADA) | ||
| ENST00000696037.1:n.2498C>T (ADA) | ||
| ENST00000696038.1:c.*602+217C>T (ADA) | ENSP00000512344.1:n.*602+217C>T | |
| ENST00000696039.1:n.1185C>T (ADA) | ||
| ENST00000696058.1:c.818C>T (ADA) | ENSP00000512361.1:p.Pro273Leu | |
| ENST00000696059.1:c.*766C>T (ADA) | ENSP00000512362.1:n.*766C>T | |
| ENST00000696060.1:c.890C>T (ADA) | ENSP00000512363.1:p.Pro297Leu | |
| ENST00000696061.1:c.818C>T (ADA) | ENSP00000512364.1:p.Pro273Leu | |
| ENST00000696062.1:c.884C>T (ADA) | ENSP00000512365.1:p.Pro295Leu | |
| ENST00000696063.1:c.896C>T (ADA) | ENSP00000512366.1:p.Pro299Leu | |
| ENST00000696064.1:c.668C>T (ADA) | ENSP00000512367.1:p.Pro223Leu | |
| ENST00000696065.1:c.167+217C>T (ADA) | ENSP00000512368.1:n.167+217C>T | |
| ENST00000696073.1:n.1132C>T (ADA) | ||
| ENST00000696074.1:n.396+217C>T (ADA) | ||
| ENST00000696075.1:c.*791C>T (ADA) | ENSP00000512374.1:n.*791C>T | |
| ENST00000696076.1:c.890C>T (ADA) | ENSP00000512375.1:p.Pro297Leu | |
| ENST00000696077.1:c.815C>T (ADA) | ENSP00000512376.1:p.Pro272Leu | |
| ENST00000696078.1:c.818C>T (ADA) | ENSP00000512377.1:p.Pro273Leu | |
| ENST00000696079.1:c.818C>T (ADA) | ENSP00000512378.1:p.Pro273Leu | |
| ENST00000696080.1:c.821C>T (ADA) | ENSP00000512379.1:p.Pro274Leu | |
| ENST00000696081.1:n.940C>T (ADA) | ||
| ENST00000696082.1:c.896C>T (ADA) | ENSP00000512380.1:p.Pro299Leu | |
| ENST00000696083.1:n.1778C>T (ADA) | ||
| ENST00000696084.1:n.998C>T (ADA) | ||
| ENST00000696104.1:c.505C>T (ADA) | ENSP00000512399.1:p.Arg169Trp | |
| ENST00000372874.9:c.821C>T (ADA) MANE Select | ENSP00000361965.4:p.Pro274Leu | |
| ENST00000372874.8:c.821C>T (ADA) | ENSP00000361965.4:p.Pro274Leu | |
| ENST00000372887.5:c.152-1321G>A (PKIG) | ENSP00000361978.1:n.152-1321G>A | |
| ENST00000464097.5:n.571C>T (ADA) | ||
| ENST00000492931.5:n.981C>T (ADA) | ||
| ENST00000536532.5:c.780+217C>T (ADA) | ENSP00000440946.1:n.780+217C>T | |
| ENST00000537820.1:c.749C>T (ADA) | ENSP00000441818.1:p.Pro250Leu | |
| ENST00000539235.5:c.*205C>T (ADA) | ENSP00000446464.1:n.*205C>T | |
| NM_000022.2:c.821C>T , LRG_16t1:c.821C>T (ADA) | NP_000013.2:p.Pro274Leu | |
| XM_005260236.2:c.749C>T (ADA) | XP_005260293.1:p.Pro250Leu | |
| XM_011528478.1:c.416C>T (ADA) | XP_011526780.1:p.Pro139Leu | |
| XM_011528479.1:c.416C>T (ADA) | XP_011526781.1:p.Pro139Leu | |
| XR_244129.1:n.834+217C>T (ADA) | ||
| NM_000022.3:c.821C>T (ADA) | NP_000013.2:p.Pro274Leu | |
| NM_001322050.1:c.416C>T (ADA) | NP_001308979.1:p.Pro139Leu | |
| NM_001322051.1:c.749C>T (ADA) | NP_001308980.1:p.Pro250Leu | |
| NR_136160.1:n.931+217C>T (ADA) | ||
| NM_000022.4:c.821C>T (ADA) MANE Select | NP_000013.2:p.Pro274Leu | |
| NM_001322050.2:c.416C>T (ADA) | NP_001308979.1:p.Pro139Leu | |
| NM_001322051.2:c.749C>T (ADA) | NP_001308980.1:p.Pro250Leu | |
| NR_136160.2:n.872+217C>T (ADA) |