gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94221068 (EAS)
Genomes Max Group AF
0.94221068 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.16330665T>C , CM000682.2:g.16330665T>C | GRCh38 |
| NC_000020.10:g.16311310T>C , CM000682.1:g.16311310T>C | GRCh37 |
| NC_000020.9:g.16259310T>C | NCBI36 |
| NG_028043.1:g.247770A>G | |
| NG_028043.2:g.247770A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354981.7:c.3711+5261A>G MANE Select | ENSP00000347076.2:n.3711+5261A>G | |
| ENST00000636835.1:c.3558+5261A>G | ENSP00000489838.1:n.3558+5261A>G | |
| ENST00000354981.6:c.3711+5261A>G | ENSP00000347076.2:n.3711+5261A>G | |
| ENST00000355755.7:c.363+5261A>G | ENSP00000347995.4:n.363+5261A>G | |
| NM_001199865.1:c.3558+5261A>G | NP_001186794.1:n.3558+5261A>G | |
| NM_024704.4:c.3711+5261A>G | NP_078980.3:n.3711+5261A>G | |
| XM_005260753.2:c.3744+5261A>G | XP_005260810.1:n.3744+5261A>G | |
| XM_005260754.2:c.3655-18247A>G | XP_005260811.1:n.3655-18247A>G | |
| XM_005260755.2:c.3591+5261A>G | XP_005260812.1:n.3591+5261A>G | |
| XM_006723588.2:c.3621+5261A>G | XP_006723651.1:n.3621+5261A>G | |
| XM_005260753.3:c.3744+5261A>G | XP_005260810.1:n.3744+5261A>G | |
| XM_005260754.3:c.3655-18247A>G | XP_005260811.1:n.3655-18247A>G | |
| XM_005260755.3:c.3591+5261A>G | XP_005260812.1:n.3591+5261A>G | |
| XM_006723588.3:c.3621+5261A>G | XP_006723651.1:n.3621+5261A>G | |
| XM_017027926.1:c.3588+5261A>G | XP_016883415.1:n.3588+5261A>G | |
| NM_001199865.2:c.3558+5261A>G | NP_001186794.1:n.3558+5261A>G | |
| NM_024704.5:c.3711+5261A>G MANE Select | NP_078980.3:n.3711+5261A>G |