gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34308162 (NFE)
Genomes Max Group AF
0.34308162 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12517293G>A , CM000674.2:g.12517293G>A | GRCh38 |
| NC_000012.11:g.12670227G>A , CM000674.1:g.12670227G>A | GRCh37 |
| NC_000012.10:g.12561494G>A | NCBI36 |
| NG_021402.1:g.50222C>T | |
| NG_021402.2:g.50222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298573.9:c.367+2569C>T MANE Select | ENSP00000298573.5:n.367+2569C>T | |
| ENST00000228862.3:c.367+2569C>T | ENSP00000228862.3:n.367+2569C>T | |
| ENST00000298573.8:c.367+2569C>T | ENSP00000298573.5:n.367+2569C>T | |
| NM_030640.2:c.367+2569C>T | NP_085143.1:n.367+2569C>T | |
| XM_005253488.1:c.87+2569C>T | XP_005253545.1:n.87+2569C>T | |
| XM_006719155.2:c.367+2569C>T | XP_006719218.1:n.367+2569C>T | |
| XM_011520856.1:c.367+2569C>T | XP_011519158.1:n.367+2569C>T | |
| XM_011520857.1:c.367+2569C>T | XP_011519159.1:n.367+2569C>T | |
| XM_005253488.3:c.87+2569C>T | XP_005253545.1:n.87+2569C>T | |
| XM_017019988.1:c.87+2569C>T | XP_016875477.1:n.87+2569C>T | |
| NM_030640.3:c.367+2569C>T MANE Select | NP_085143.1:n.367+2569C>T |