Linked Data
ClinVar Variation Id:
1973
dbSNP Id:
rs73598374
ExAC:
20:43280227 C / T
gnomAD v2:
20-43280227-C-T
gnomAD v3:
20-44651586-C-T
gnomAD v4:
20-44651586-C-T
ERepo:
CA115289/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44651586C>T , CM000682.2:g.44651586C>T | GRCh38 |
| NC_000020.10:g.43280227C>T , CM000682.1:g.43280227C>T | GRCh37 |
| NC_000020.9:g.42713641C>T | NCBI36 |
| NG_007385.1:g.5150G>A , LRG_16:g.5150G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.113G>A | ||
| ENST00000536076.2:c.-121+316G>A | ENSP00000512234.1:n.-121+316G>A | |
| ENST00000536532.6:c.22G>A | ENSP00000440946.1:p.Asp8Asn | |
| ENST00000537820.2:c.22G>A | ENSP00000441818.1:p.Asp8Asn | |
| ENST00000539235.6:c.22G>A | ENSP00000446464.1:p.Asp8Asn | |
| ENST00000695889.1:c.22G>A | ENSP00000512240.1:p.Asp8Asn | |
| ENST00000695891.1:c.22G>A | ENSP00000512241.1:p.Asp8Asn | |
| ENST00000695949.1:c.22G>A | ENSP00000512281.1:p.Asp8Asn | |
| ENST00000695957.1:c.22G>A | ENSP00000512286.1:p.Asp8Asn | |
| ENST00000695991.1:c.22G>A | ENSP00000512314.1:p.Asp8Asn | |
| ENST00000695992.1:c.22G>A | ENSP00000512315.1:p.Asp8Asn | |
| ENST00000695993.1:c.22G>A | ENSP00000512316.1:p.Asp8Asn | |
| ENST00000695994.1:c.22G>A | ENSP00000512317.1:p.Asp8Asn | |
| ENST00000695995.1:c.22G>A | ENSP00000512318.1:p.Asp8Asn | |
| ENST00000695996.1:n.93G>A | ||
| ENST00000695997.1:n.93G>A | ||
| ENST00000696003.1:n.114G>A | ||
| ENST00000696004.1:n.114G>A | ||
| ENST00000696006.1:c.22G>A | ENSP00000512325.1:p.Asp8Asn | |
| ENST00000696009.1:n.133G>A | ||
| ENST00000696010.1:n.135G>A | ||
| ENST00000696017.1:c.22G>A | ENSP00000512333.1:p.Asp8Asn | |
| ENST00000696034.1:c.22G>A | ENSP00000512343.1:p.Asp8Asn | |
| ENST00000696038.1:c.22G>A | ENSP00000512344.1:p.Asp8Asn | |
| ENST00000696039.1:n.321+316G>A | ||
| ENST00000696058.1:c.22G>A | ENSP00000512361.1:p.Asp8Asn | |
| ENST00000696059.1:c.22G>A | ENSP00000512362.1:p.Asp8Asn | |
| ENST00000696060.1:c.22G>A | ENSP00000512363.1:p.Asp8Asn | |
| ENST00000696061.1:c.22G>A | ENSP00000512364.1:p.Asp8Asn | |
| ENST00000696062.1:c.96+514G>A | ENSP00000512365.1:n.96+514G>A | |
| ENST00000696063.1:c.22G>A | ENSP00000512366.1:p.Asp8Asn | |
| ENST00000696064.1:c.-118+316G>A | ENSP00000512367.1:n.-118+316G>A | |
| ENST00000696065.1:c.-121+316G>A | ENSP00000512368.1:n.-121+316G>A | |
| ENST00000696075.1:c.22G>A | ENSP00000512374.1:p.Asp8Asn | |
| ENST00000696076.1:c.22G>A | ENSP00000512375.1:p.Asp8Asn | |
| ENST00000696077.1:c.22G>A | ENSP00000512376.1:p.Asp8Asn | |
| ENST00000696078.1:c.22G>A | ENSP00000512377.1:p.Asp8Asn | |
| ENST00000696079.1:c.22G>A | ENSP00000512378.1:p.Asp8Asn | |
| ENST00000696080.1:c.22G>A | ENSP00000512379.1:p.Asp8Asn | |
| ENST00000696084.1:n.123G>A | ||
| ENST00000696104.1:c.22G>A | ENSP00000512399.1:p.Asp8Asn | |
| ENST00000696105.1:c.22G>A | ENSP00000512400.1:p.Asp8Asn | |
| ENST00000372874.9:c.22G>A MANE Select | ENSP00000361965.4:p.Asp8Asn | |
| ENST00000372874.8:c.22G>A | ENSP00000361965.4:p.Asp8Asn | |
| ENST00000492931.5:n.106G>A | ||
| ENST00000535573.1:n.332+316G>A | ||
| ENST00000536076.1:n.213+316G>A | ||
| ENST00000536532.5:c.22G>A | ENSP00000440946.1:p.Asp8Asn | |
| ENST00000537820.1:c.22G>A | ENSP00000441818.1:p.Asp8Asn | |
| ENST00000539235.5:c.22G>A | ENSP00000446464.1:p.Asp8Asn | |
| ENST00000545776.5:n.76G>A | ||
| NM_000022.2:c.22G>A , LRG_16t1:c.22G>A | NP_000013.2:p.Asp8Asn | |
| XM_005260236.2:c.22G>A | XP_005260293.1:p.Asp8Asn | |
| XM_011528478.1:c.-268G>A | XP_011526780.1:n.-268G>A | |
| XM_011528479.1:c.-257+316G>A | XP_011526781.1:n.-257+316G>A | |
| XR_244129.1:n.76G>A | ||
| NM_000022.3:c.22G>A | NP_000013.2:p.Asp8Asn | |
| NM_001322050.1:c.-268G>A | NP_001308979.1:n.-268G>A | |
| NM_001322051.1:c.22G>A | NP_001308980.1:p.Asp8Asn | |
| NR_136160.1:n.173G>A | ||
| NM_000022.4:c.22G>A MANE Select | NP_000013.2:p.Asp8Asn | |
| NM_001322050.2:c.-268G>A | NP_001308979.1:n.-268G>A | |
| NM_001322051.2:c.22G>A | NP_001308980.1:p.Asp8Asn | |
| NR_136160.2:n.114G>A |