Linked Data
ClinVar Variation Id:
1969
ClinVar RCV Id:
RCV000002046
dbSNP Id:
rs387906267
gnomAD v4:
20-44626601-T-C
ERepo:
CA252010/MONDO:0007064/114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44626601T>C , CM000682.2:g.44626601T>C | GRCh38 |
| NC_000020.10:g.43255242T>C , CM000682.1:g.43255242T>C | GRCh37 |
| NC_000020.9:g.42688656T>C | NCBI36 |
| NG_007385.1:g.30135A>G , LRG_16:g.30135A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.310-2A>G | ||
| ENST00000536076.2:c.66-2A>G | ENSP00000512234.1:n.66-2A>G | |
| ENST00000536532.6:c.219-2A>G | ENSP00000440946.1:n.219-2A>G | |
| ENST00000537820.2:c.219-2A>G | ENSP00000441818.1:n.219-2A>G | |
| ENST00000539235.6:c.218+2446A>G | ENSP00000446464.1:n.218+2446A>G | |
| ENST00000695889.1:c.218+2446A>G | ENSP00000512240.1:n.218+2446A>G | |
| ENST00000695890.1:n.2020A>G | ||
| ENST00000695891.1:c.218+2446A>G | ENSP00000512241.1:n.218+2446A>G | |
| ENST00000695927.1:c.297-2A>G | ENSP00000512270.1:n.297-2A>G | |
| ENST00000695949.1:c.216-2A>G | ENSP00000512281.1:n.216-2A>G | |
| ENST00000695957.1:c.219-2A>G | ENSP00000512286.1:n.219-2A>G | |
| ENST00000695991.1:c.216+2448A>G | ENSP00000512314.1:n.216+2448A>G | |
| ENST00000695992.1:c.219-2A>G | ENSP00000512315.1:n.219-2A>G | |
| ENST00000695993.1:c.219-2A>G | ENSP00000512316.1:n.219-2A>G | |
| ENST00000695994.1:c.219-2A>G | ENSP00000512317.1:n.219-2A>G | |
| ENST00000695995.1:c.216+2448A>G | ENSP00000512318.1:n.216+2448A>G | |
| ENST00000695996.1:n.290-2A>G | ||
| ENST00000695997.1:n.290-2A>G | ||
| ENST00000696003.1:n.311-2A>G | ||
| ENST00000696004.1:n.311-2A>G | ||
| ENST00000696006.1:c.219-2A>G | ENSP00000512325.1:n.219-2A>G | |
| ENST00000696007.1:c.186-2A>G | ENSP00000512326.1:n.186-2A>G | |
| ENST00000696009.1:n.330-2A>G | ||
| ENST00000696017.1:c.216-2A>G | ENSP00000512333.1:n.216-2A>G | |
| ENST00000696034.1:c.219-2A>G | ENSP00000512343.1:n.219-2A>G | |
| ENST00000696035.1:n.327A>G | ||
| ENST00000696036.1:n.907A>G | ||
| ENST00000696037.1:n.1894A>G | ||
| ENST00000696038.1:c.217-2A>G | ENSP00000512344.1:n.217-2A>G | |
| ENST00000696039.1:n.507-2A>G | ||
| ENST00000696058.1:c.219-2A>G | ENSP00000512361.1:n.219-2A>G | |
| ENST00000696059.1:c.*164-2A>G | ENSP00000512362.1:n.*164-2A>G | |
| ENST00000696060.1:c.219-2A>G | ENSP00000512363.1:n.219-2A>G | |
| ENST00000696061.1:c.216-2A>G | ENSP00000512364.1:n.216-2A>G | |
| ENST00000696062.1:c.282-2A>G | ENSP00000512365.1:n.282-2A>G | |
| ENST00000696063.1:c.294-2A>G | ENSP00000512366.1:n.294-2A>G | |
| ENST00000696064.1:c.66-2A>G | ENSP00000512367.1:n.66-2A>G | |
| ENST00000696065.1:c.65+2446A>G | ENSP00000512368.1:n.65+2446A>G | |
| ENST00000696075.1:c.*189-2A>G | ENSP00000512374.1:n.*189-2A>G | |
| ENST00000696076.1:c.219-2A>G | ENSP00000512375.1:n.219-2A>G | |
| ENST00000696077.1:c.216-2A>G | ENSP00000512376.1:n.216-2A>G | |
| ENST00000696078.1:c.219-2A>G | ENSP00000512377.1:n.219-2A>G | |
| ENST00000696079.1:c.219-2A>G | ENSP00000512378.1:n.219-2A>G | |
| ENST00000696080.1:c.219-2A>G | ENSP00000512379.1:n.219-2A>G | |
| ENST00000696082.1:c.297-2A>G | ENSP00000512380.1:n.297-2A>G | |
| ENST00000696084.1:n.320-2A>G | ||
| ENST00000696104.1:c.219-2A>G | ENSP00000512399.1:n.219-2A>G | |
| ENST00000696105.1:c.219-2A>G | ENSP00000512400.1:n.219-2A>G | |
| ENST00000372874.9:c.219-2A>G MANE Select | ENSP00000361965.4:n.219-2A>G | |
| ENST00000372874.8:c.219-2A>G | ENSP00000361965.4:n.219-2A>G | |
| ENST00000492931.5:n.303-2A>G | ||
| ENST00000536076.1:n.399-2A>G | ||
| ENST00000536532.5:c.219-2A>G | ENSP00000440946.1:n.219-2A>G | |
| ENST00000537820.1:c.219-2A>G | ENSP00000441818.1:n.219-2A>G | |
| ENST00000539235.5:c.218+2446A>G | ENSP00000446464.1:n.218+2446A>G | |
| ENST00000545776.5:n.273-2A>G | ||
| NM_000022.2:c.219-2A>G , LRG_16t1:c.219-2A>G | NP_000013.2:n.219-2A>G | |
| XM_005260236.2:c.219-2A>G | XP_005260293.1:n.219-2A>G | |
| XM_011528478.1:c.-71-2A>G | XP_011526780.1:n.-71-2A>G | |
| XM_011528479.1:c.-71-2A>G | XP_011526781.1:n.-71-2A>G | |
| XR_244129.1:n.273-2A>G | ||
| NM_000022.3:c.219-2A>G | NP_000013.2:n.219-2A>G | |
| NM_001322050.1:c.-71-2A>G | NP_001308979.1:n.-71-2A>G | |
| NM_001322051.1:c.219-2A>G | NP_001308980.1:n.219-2A>G | |
| NR_136160.1:n.370-2A>G | ||
| NM_000022.4:c.219-2A>G MANE Select | NP_000013.2:n.219-2A>G | |
| NM_001322050.2:c.-71-2A>G | NP_001308979.1:n.-71-2A>G | |
| NM_001322051.2:c.219-2A>G | NP_001308980.1:n.219-2A>G | |
| NR_136160.2:n.311-2A>G |