Linked Data
ClinVar Variation Id:
1977
ClinVar RCV Id:
RCV000002054
dbSNP Id:
rs199422328
ExAC:
20:43255238 C / A
gnomAD v2:
20-43255238-C-A
gnomAD v3:
20-44626597-C-A
gnomAD v4:
20-44626597-C-A
PubMed:
PMID:8614422
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44626597C>A , CM000682.2:g.44626597C>A | GRCh38 |
| NC_000020.10:g.43255238C>A , CM000682.1:g.43255238C>A | GRCh37 |
| NC_000020.9:g.42688652C>A | NCBI36 |
| NG_007385.1:g.30139G>T , LRG_16:g.30139G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.312G>T | ||
| ENST00000536076.2:c.68G>T | ENSP00000512234.1:p.Gly23Val | |
| ENST00000536532.6:c.221G>T | ENSP00000440946.1:p.Gly74Val | |
| ENST00000537820.2:c.221G>T | ENSP00000441818.1:p.Gly74Val | |
| ENST00000539235.6:c.218+2450G>T | ENSP00000446464.1:n.218+2450G>T | |
| ENST00000695889.1:c.218+2450G>T | ENSP00000512240.1:n.218+2450G>T | |
| ENST00000695890.1:n.2024G>T | ||
| ENST00000695891.1:c.218+2450G>T | ENSP00000512241.1:n.218+2450G>T | |
| ENST00000695927.1:c.299G>T | ENSP00000512270.1:p.Gly100Val | |
| ENST00000695949.1:c.218G>T | ENSP00000512281.1:p.Gly73Val | |
| ENST00000695957.1:c.221G>T | ENSP00000512286.1:p.Gly74Val | |
| ENST00000695991.1:c.216+2452G>T | ENSP00000512314.1:n.216+2452G>T | |
| ENST00000695992.1:c.221G>T | ENSP00000512315.1:p.Gly74Val | |
| ENST00000695993.1:c.221G>T | ENSP00000512316.1:p.Gly74Val | |
| ENST00000695994.1:c.221G>T | ENSP00000512317.1:p.Gly74Val | |
| ENST00000695995.1:c.216+2452G>T | ENSP00000512318.1:n.216+2452G>T | |
| ENST00000695996.1:n.292G>T | ||
| ENST00000695997.1:n.292G>T | ||
| ENST00000696003.1:n.313G>T | ||
| ENST00000696004.1:n.313G>T | ||
| ENST00000696006.1:c.221G>T | ENSP00000512325.1:p.Gly74Val | |
| ENST00000696007.1:c.188G>T | ENSP00000512326.1:p.Gly63Val | |
| ENST00000696009.1:n.332G>T | ||
| ENST00000696017.1:c.218G>T | ENSP00000512333.1:p.Gly73Val | |
| ENST00000696034.1:c.221G>T | ENSP00000512343.1:p.Gly74Val | |
| ENST00000696035.1:n.331G>T | ||
| ENST00000696036.1:n.911G>T | ||
| ENST00000696037.1:n.1898G>T | ||
| ENST00000696038.1:c.219G>T | ENSP00000512344.1:p.Gly73= | |
| ENST00000696039.1:n.509G>T | ||
| ENST00000696058.1:c.221G>T | ENSP00000512361.1:p.Gly74Val | |
| ENST00000696059.1:c.*166G>T | ENSP00000512362.1:n.*166G>T | |
| ENST00000696060.1:c.221G>T | ENSP00000512363.1:p.Gly74Val | |
| ENST00000696061.1:c.218G>T | ENSP00000512364.1:p.Gly73Val | |
| ENST00000696062.1:c.284G>T | ENSP00000512365.1:p.Gly95Val | |
| ENST00000696063.1:c.296G>T | ENSP00000512366.1:p.Gly99Val | |
| ENST00000696064.1:c.68G>T | ENSP00000512367.1:p.Gly23Val | |
| ENST00000696065.1:c.65+2450G>T | ENSP00000512368.1:n.65+2450G>T | |
| ENST00000696075.1:c.*191G>T | ENSP00000512374.1:n.*191G>T | |
| ENST00000696076.1:c.221G>T | ENSP00000512375.1:p.Gly74Val | |
| ENST00000696077.1:c.218G>T | ENSP00000512376.1:p.Gly73Val | |
| ENST00000696078.1:c.221G>T | ENSP00000512377.1:p.Gly74Val | |
| ENST00000696079.1:c.221G>T | ENSP00000512378.1:p.Gly74Val | |
| ENST00000696080.1:c.221G>T | ENSP00000512379.1:p.Gly74Val | |
| ENST00000696082.1:c.299G>T | ENSP00000512380.1:p.Gly100Val | |
| ENST00000696084.1:n.322G>T | ||
| ENST00000696104.1:c.221G>T | ENSP00000512399.1:p.Gly74Val | |
| ENST00000696105.1:c.221G>T | ENSP00000512400.1:p.Gly74Val | |
| ENST00000372874.9:c.221G>T MANE Select | ENSP00000361965.4:p.Gly74Val | |
| ENST00000372874.8:c.221G>T | ENSP00000361965.4:p.Gly74Val | |
| ENST00000492931.5:n.305G>T | ||
| ENST00000536076.1:n.401G>T | ||
| ENST00000536532.5:c.221G>T | ENSP00000440946.1:p.Gly74Val | |
| ENST00000537820.1:c.221G>T | ENSP00000441818.1:p.Gly74Val | |
| ENST00000539235.5:c.218+2450G>T | ENSP00000446464.1:n.218+2450G>T | |
| ENST00000545776.5:n.275G>T | ||
| NM_000022.2:c.221G>T , LRG_16t1:c.221G>T | NP_000013.2:p.Gly74Val | |
| XM_005260236.2:c.221G>T | XP_005260293.1:p.Gly74Val | |
| XM_011528478.1:c.-69G>T | XP_011526780.1:n.-69G>T | |
| XM_011528479.1:c.-69G>T | XP_011526781.1:n.-69G>T | |
| XR_244129.1:n.275G>T | ||
| NM_000022.3:c.221G>T | NP_000013.2:p.Gly74Val | |
| NM_001322050.1:c.-69G>T | NP_001308979.1:n.-69G>T | |
| NM_001322051.1:c.221G>T | NP_001308980.1:p.Gly74Val | |
| NR_136160.1:n.372G>T | ||
| NM_000022.4:c.221G>T MANE Select | NP_000013.2:p.Gly74Val | |
| NM_001322050.2:c.-69G>T | NP_001308979.1:n.-69G>T | |
| NM_001322051.2:c.221G>T | NP_001308980.1:p.Gly74Val | |
| NR_136160.2:n.313G>T |