Linked Data
ClinVar Variation Id:
1101175
ClinVar RCV Id:
RCV001424024
dbSNP Id:
rs2145315694
gnomAD v4:
20-44624256-T-G
MyVariant Identifiers:
chr20:g.43252897T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624256T>G , CM000682.2:g.44624256T>G | GRCh38 |
| NC_000020.10:g.43252897T>G , CM000682.1:g.43252897T>G | GRCh37 |
| NC_000020.9:g.42686311T>G | NCBI36 |
| NG_007385.1:g.32480A>C , LRG_16:g.32480A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.643A>C | ||
| ENST00000536076.2:c.399A>C | ENSP00000512234.1:p.Gly133= | |
| ENST00000536532.6:c.552A>C | ENSP00000440946.1:p.Gly184= | |
| ENST00000537820.2:c.552A>C | ENSP00000441818.1:p.Gly184= | |
| ENST00000539235.6:c.219-1178A>C | ENSP00000446464.1:n.219-1178A>C | |
| ENST00000695889.1:c.219-1326A>C | ENSP00000512240.1:n.219-1326A>C | |
| ENST00000695890.1:n.2355A>C | ||
| ENST00000695891.1:c.219-1326A>C | ENSP00000512241.1:n.219-1326A>C | |
| ENST00000695927.1:c.630A>C | ENSP00000512270.1:p.Gly210= | |
| ENST00000695949.1:c.549A>C | ENSP00000512281.1:p.Gly183= | |
| ENST00000695957.1:c.*43A>C | ENSP00000512286.1:n.*43A>C | |
| ENST00000695991.1:c.217-1326A>C | ENSP00000512314.1:n.217-1326A>C | |
| ENST00000695992.1:c.552A>C | ENSP00000512315.1:p.Gly184= | |
| ENST00000695993.1:c.552A>C | ENSP00000512316.1:p.Gly184= | |
| ENST00000695994.1:c.552A>C | ENSP00000512317.1:p.Gly184= | |
| ENST00000695995.1:c.217-1178A>C | ENSP00000512318.1:n.217-1178A>C | |
| ENST00000695996.1:n.623A>C | ||
| ENST00000695997.1:n.507A>C | ||
| ENST00000696003.1:n.644A>C | ||
| ENST00000696004.1:n.644A>C | ||
| ENST00000696005.1:c.74A>C | ||
| ENST00000696006.1:c.552A>C | ENSP00000512325.1:p.Gly184= | |
| ENST00000696007.1:c.403A>C | ENSP00000512326.1:n.403A>C | |
| ENST00000696008.1:n.1707A>C | ||
| ENST00000696009.1:n.1902A>C | ||
| ENST00000696017.1:c.549A>C | ENSP00000512333.1:p.Gly183= | |
| ENST00000696034.1:c.552A>C | ENSP00000512343.1:p.Gly184= | |
| ENST00000696035.1:n.662A>C | ||
| ENST00000696036.1:n.1242A>C | ||
| ENST00000696037.1:n.2229A>C | ||
| ENST00000696038.1:c.*298A>C | ENSP00000512344.1:n.*298A>C | |
| ENST00000696039.1:n.840A>C | ||
| ENST00000696058.1:c.552A>C | ENSP00000512361.1:p.Gly184= | |
| ENST00000696059.1:c.*497A>C | ENSP00000512362.1:n.*497A>C | |
| ENST00000696060.1:c.552A>C | ENSP00000512363.1:p.Gly184= | |
| ENST00000696061.1:c.549A>C | ENSP00000512364.1:p.Gly183= | |
| ENST00000696062.1:c.615A>C | ENSP00000512365.1:p.Gly205= | |
| ENST00000696063.1:c.627A>C | ENSP00000512366.1:p.Gly209= | |
| ENST00000696064.1:c.399A>C | ENSP00000512367.1:p.Gly133= | |
| ENST00000696065.1:c.66-1326A>C | ENSP00000512368.1:n.66-1326A>C | |
| ENST00000696074.1:n.168A>C | ||
| ENST00000696075.1:c.*522A>C | ENSP00000512374.1:n.*522A>C | |
| ENST00000696076.1:c.552A>C | ENSP00000512375.1:p.Gly184= | |
| ENST00000696077.1:c.549A>C | ENSP00000512376.1:p.Gly183= | |
| ENST00000696078.1:c.552A>C | ENSP00000512377.1:p.Gly184= | |
| ENST00000696079.1:c.552A>C | ENSP00000512378.1:p.Gly184= | |
| ENST00000696080.1:c.552A>C | ENSP00000512379.1:p.Gly184= | |
| ENST00000696081.1:n.671A>C | ||
| ENST00000696082.1:c.630A>C | ENSP00000512380.1:p.Gly210= | |
| ENST00000696083.1:n.1433A>C | ||
| ENST00000696084.1:n.653A>C | ||
| ENST00000696104.1:c.363-1326A>C | ENSP00000512399.1:n.363-1326A>C | |
| ENST00000696105.1:c.*93A>C | ENSP00000512400.1:n.*93A>C | |
| ENST00000372874.9:c.552A>C MANE Select | ENSP00000361965.4:p.Gly184= | |
| ENST00000372874.8:c.552A>C | ENSP00000361965.4:p.Gly184= | |
| ENST00000464097.5:n.226A>C | ||
| ENST00000492931.5:n.636A>C | ||
| ENST00000536532.5:c.552A>C | ENSP00000440946.1:p.Gly184= | |
| ENST00000537820.1:c.552A>C | ENSP00000441818.1:p.Gly184= | |
| ENST00000539235.5:c.219-1178A>C | ENSP00000446464.1:n.219-1178A>C | |
| NM_000022.2:c.552A>C , LRG_16t1:c.552A>C | NP_000013.2:p.Gly184= | |
| XM_005260236.2:c.552A>C | XP_005260293.1:p.Gly184= | |
| XM_011528478.1:c.147A>C | XP_011526780.1:p.Gly49= | |
| XM_011528479.1:c.147A>C | XP_011526781.1:p.Gly49= | |
| XR_244129.1:n.606A>C | ||
| NM_000022.3:c.552A>C | NP_000013.2:p.Gly184= | |
| NM_001322050.1:c.147A>C | NP_001308979.1:p.Gly49= | |
| NM_001322051.1:c.552A>C | NP_001308980.1:p.Gly184= | |
| NR_136160.1:n.703A>C | ||
| NM_000022.4:c.552A>C MANE Select | NP_000013.2:p.Gly184= | |
| NM_001322050.2:c.147A>C | NP_001308979.1:p.Gly49= | |
| NM_001322051.2:c.552A>C | NP_001308980.1:p.Gly184= | |
| NR_136160.2:n.644A>C |