Linked Data
ClinVar Variation Id:
1639121
ClinVar RCV Id:
RCV002126700
dbSNP Id:
rs2065362080
gnomAD v4:
20-44624319-G-C
MyVariant Identifiers:
chr20:g.43252960G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624319G>C , CM000682.2:g.44624319G>C | GRCh38 |
| NC_000020.10:g.43252960G>C , CM000682.1:g.43252960G>C | GRCh37 |
| NC_000020.9:g.42686374G>C | NCBI36 |
| NG_007385.1:g.32417C>G , LRG_16:g.32417C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.580C>G | ||
| ENST00000536076.2:c.336C>G | ENSP00000512234.1:p.Pro112= | |
| ENST00000536532.6:c.489C>G | ENSP00000440946.1:p.Pro163= | |
| ENST00000537820.2:c.489C>G | ENSP00000441818.1:p.Pro163= | |
| ENST00000539235.6:c.219-1241C>G | ENSP00000446464.1:n.219-1241C>G | |
| ENST00000695889.1:c.219-1389C>G | ENSP00000512240.1:n.219-1389C>G | |
| ENST00000695890.1:n.2292C>G | ||
| ENST00000695891.1:c.219-1389C>G | ENSP00000512241.1:n.219-1389C>G | |
| ENST00000695927.1:c.567C>G | ENSP00000512270.1:p.Pro189= | |
| ENST00000695949.1:c.486C>G | ENSP00000512281.1:p.Pro162= | |
| ENST00000695957.1:c.373C>G | ENSP00000512286.1:p.Gln125Glu | |
| ENST00000695991.1:c.217-1389C>G | ENSP00000512314.1:n.217-1389C>G | |
| ENST00000695992.1:c.489C>G | ENSP00000512315.1:p.Pro163= | |
| ENST00000695993.1:c.489C>G | ENSP00000512316.1:p.Pro163= | |
| ENST00000695994.1:c.489C>G | ENSP00000512317.1:p.Pro163= | |
| ENST00000695995.1:c.217-1241C>G | ENSP00000512318.1:n.217-1241C>G | |
| ENST00000695996.1:n.560C>G | ||
| ENST00000695997.1:n.444C>G | ||
| ENST00000696003.1:n.581C>G | ||
| ENST00000696004.1:n.581C>G | ||
| ENST00000696005.1:c.11C>G | ||
| ENST00000696006.1:c.489C>G | ENSP00000512325.1:p.Pro163= | |
| ENST00000696007.1:c.340C>G | ENSP00000512326.1:p.Gln114Glu | |
| ENST00000696008.1:n.1644C>G | ||
| ENST00000696009.1:n.1839C>G | ||
| ENST00000696017.1:c.486C>G | ENSP00000512333.1:p.Pro162= | |
| ENST00000696034.1:c.489C>G | ENSP00000512343.1:p.Pro163= | |
| ENST00000696035.1:n.599C>G | ||
| ENST00000696036.1:n.1179C>G | ||
| ENST00000696037.1:n.2166C>G | ||
| ENST00000696038.1:c.*235C>G | ENSP00000512344.1:n.*235C>G | |
| ENST00000696039.1:n.777C>G | ||
| ENST00000696058.1:c.489C>G | ENSP00000512361.1:p.Pro163= | |
| ENST00000696059.1:c.*434C>G | ENSP00000512362.1:n.*434C>G | |
| ENST00000696060.1:c.489C>G | ENSP00000512363.1:p.Pro163= | |
| ENST00000696061.1:c.486C>G | ENSP00000512364.1:p.Pro162= | |
| ENST00000696062.1:c.552C>G | ENSP00000512365.1:p.Pro184= | |
| ENST00000696063.1:c.564C>G | ENSP00000512366.1:p.Pro188= | |
| ENST00000696064.1:c.336C>G | ENSP00000512367.1:p.Pro112= | |
| ENST00000696065.1:c.66-1389C>G | ENSP00000512368.1:n.66-1389C>G | |
| ENST00000696074.1:n.105C>G | ||
| ENST00000696075.1:c.*459C>G | ENSP00000512374.1:n.*459C>G | |
| ENST00000696076.1:c.489C>G | ENSP00000512375.1:p.Pro163= | |
| ENST00000696077.1:c.486C>G | ENSP00000512376.1:p.Pro162= | |
| ENST00000696078.1:c.489C>G | ENSP00000512377.1:p.Pro163= | |
| ENST00000696079.1:c.489C>G | ENSP00000512378.1:p.Pro163= | |
| ENST00000696080.1:c.489C>G | ENSP00000512379.1:p.Pro163= | |
| ENST00000696081.1:n.608C>G | ||
| ENST00000696082.1:c.567C>G | ENSP00000512380.1:p.Pro189= | |
| ENST00000696083.1:n.1370C>G | ||
| ENST00000696084.1:n.590C>G | ||
| ENST00000696104.1:c.363-1389C>G | ENSP00000512399.1:n.363-1389C>G | |
| ENST00000696105.1:c.*30C>G | ENSP00000512400.1:n.*30C>G | |
| ENST00000372874.9:c.489C>G MANE Select | ENSP00000361965.4:p.Pro163= | |
| ENST00000372874.8:c.489C>G | ENSP00000361965.4:p.Pro163= | |
| ENST00000464097.5:n.163C>G | ||
| ENST00000492931.5:n.573C>G | ||
| ENST00000536532.5:c.489C>G | ENSP00000440946.1:p.Pro163= | |
| ENST00000537820.1:c.489C>G | ENSP00000441818.1:p.Pro163= | |
| ENST00000539235.5:c.219-1241C>G | ENSP00000446464.1:n.219-1241C>G | |
| NM_000022.2:c.489C>G , LRG_16t1:c.489C>G | NP_000013.2:p.Pro163= | |
| XM_005260236.2:c.489C>G | XP_005260293.1:p.Pro163= | |
| XM_011528478.1:c.84C>G | XP_011526780.1:p.Pro28= | |
| XM_011528479.1:c.84C>G | XP_011526781.1:p.Pro28= | |
| XR_244129.1:n.543C>G | ||
| NM_000022.3:c.489C>G | NP_000013.2:p.Pro163= | |
| NM_001322050.1:c.84C>G | NP_001308979.1:p.Pro28= | |
| NM_001322051.1:c.489C>G | NP_001308980.1:p.Pro163= | |
| NR_136160.1:n.640C>G | ||
| NM_000022.4:c.489C>G MANE Select | NP_000013.2:p.Pro163= | |
| NM_001322050.2:c.84C>G | NP_001308979.1:p.Pro28= | |
| NM_001322051.2:c.489C>G | NP_001308980.1:p.Pro163= | |
| NR_136160.2:n.581C>G |