Linked Data
ClinVar Variation Id:
333430
dbSNP Id:
rs374515060
ExAC:
2:202070612 A / G
gnomAD v2:
2-202070612-A-G
gnomAD v3:
2-201205889-A-G
gnomAD v4:
2-201205889-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201205889A>G , CM000664.2:g.201205889A>G | GRCh38 |
| NC_000002.11:g.202070612A>G , CM000664.1:g.202070612A>G | GRCh37 |
| NC_000002.10:g.201778857A>G | NCBI36 |
| NG_007265.1:g.27758A>G , LRG_33:g.27758A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313728.12:c.721+2123A>G | ENSP00000314599.7:n.721+2123A>G | |
| ENST00000346817.10:c.685-2186A>G | ENSP00000237865.7:n.685-2186A>G | |
| ENST00000438843.6:c.*270+2123A>G | ENSP00000401914.1:n.*270+2123A>G | |
| ENST00000492363.6:c.721+2123A>G | ENSP00000512459.1:n.721+2123A>G | |
| ENST00000696199.1:c.721+2123A>G | ENSP00000512481.1:n.721+2123A>G | |
| ENST00000286186.11:c.729A>G MANE Select | ENSP00000286186.6:p.Arg243= | |
| ENST00000272879.9:c.729A>G | ENSP00000272879.5:p.Arg243= | |
| ENST00000286186.10:c.729A>G | ENSP00000286186.6:p.Arg243= | |
| ENST00000313728.11:c.721+2123A>G | ENSP00000314599.7:n.721+2123A>G | |
| ENST00000346817.9:c.685-2186A>G | ENSP00000237865.7:n.685-2186A>G | |
| ENST00000360132.7:c.721+2123A>G | ENSP00000353250.3:n.721+2123A>G | |
| ENST00000438843.5:c.*270+2123A>G | ENSP00000401914.1:n.*270+2123A>G | |
| ENST00000448480.1:c.685-2186A>G | ENSP00000396835.1:n.685-2186A>G | |
| ENST00000460140.5:n.933A>G | ||
| ENST00000492363.5:n.721+2123A>G | ||
| NM_001206524.1:c.721+2123A>G | NP_001193453.1:n.721+2123A>G | |
| NM_001206542.1:c.685-2186A>G | NP_001193471.1:n.685-2186A>G | |
| NM_001230.4:c.685-2186A>G | NP_001221.2:n.685-2186A>G | |
| NM_032974.4:c.729A>G | NP_116756.2:p.Arg243= | |
| NM_032976.3:c.721+2123A>G | NP_116758.1:n.721+2123A>G | |
| NM_032977.3:c.729A>G , LRG_33t1:c.729A>G | NP_116759.2:p.Arg243= | |
| XM_005246907.2:c.726A>G | XP_005246964.1:p.Arg242= | |
| XM_006712796.2:c.63+2123A>G | XP_006712859.1:n.63+2123A>G | |
| XM_011511990.1:c.718+2123A>G | XP_011510292.1:n.718+2123A>G | |
| XR_923043.1:n.933A>G | ||
| XR_923044.1:n.925+2123A>G | ||
| XM_006712796.3:c.63+2123A>G | XP_006712859.1:n.63+2123A>G | |
| XM_011511990.2:c.718+2123A>G | XP_011510292.1:n.718+2123A>G | |
| XR_923043.2:n.933A>G | ||
| XR_923044.2:n.925+2123A>G | ||
| NM_001206524.2:c.721+2123A>G | NP_001193453.1:n.721+2123A>G | |
| NM_001206542.2:c.685-2186A>G | NP_001193471.1:n.685-2186A>G | |
| NM_001230.5:c.685-2186A>G | NP_001221.2:n.685-2186A>G | |
| NM_032974.5:c.729A>G | NP_116756.2:p.Arg243= | |
| NM_032977.4:c.729A>G MANE Select | NP_116759.2:p.Arg243= | |
| NM_032976.4:c.721+2123A>G | NP_116758.1:n.721+2123A>G |