gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32016979 (AFR)
Genomes Max Group AF
0.32016979 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110949828C>T , CM000664.2:g.110949828C>T | GRCh38 |
| NC_000002.11:g.111707405C>T , CM000664.1:g.111707405C>T | GRCh37 |
| NC_000002.10:g.111423876C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000676595.2:c.1060-13796C>T | ENSP00000503683.1:n.1060-13796C>T | |
| ENST00000439055.6:c.1059+16186C>T MANE Select | ENSP00000407761.1:n.1059+16186C>T | |
| ENST00000676595.1:c.1060-13796C>T | ENSP00000503683.1:n.1060-13796C>T | |
| ENST00000389811.8:c.1060-13796C>T | ENSP00000374461.4:n.1060-13796C>T | |
| ENST00000417074.5:c.573+16186C>T | ENSP00000387832.1:n.573+16186C>T | |
| ENST00000433706.5:c.267-13796C>T | ||
| ENST00000439055.5:c.1059+16186C>T | ENSP00000407761.1:n.1059+16186C>T | |
| NM_001142807.1:c.1059+16186C>T | NP_001136279.1:n.1059+16186C>T | |
| XM_011511404.1:c.1060-13796C>T | XP_011509706.1:n.1060-13796C>T | |
| XM_011511405.1:c.1060-13796C>T | XP_011509707.1:n.1060-13796C>T | |
| XM_011511406.1:c.1060-13796C>T | XP_011509708.1:n.1060-13796C>T | |
| XM_011511407.1:c.1048-13796C>T | XP_011509709.1:n.1048-13796C>T | |
| XM_011511408.1:c.976-13796C>T | XP_011509710.1:n.976-13796C>T | |
| XM_011511409.1:c.1060-13796C>T | XP_011509711.1:n.1060-13796C>T | |
| XM_011511410.1:c.1060-13796C>T | XP_011509712.1:n.1060-13796C>T | |
| XM_011511411.1:c.943-13796C>T | XP_011509713.1:n.943-13796C>T | |
| XM_011511412.1:c.1060-13796C>T | XP_011509714.1:n.1060-13796C>T | |
| XM_011511413.1:c.1060-13796C>T | XP_011509715.1:n.1060-13796C>T | |
| XM_011511414.1:c.1060-13796C>T | XP_011509716.1:n.1060-13796C>T | |
| XM_011511415.1:c.1060-13796C>T | XP_011509717.1:n.1060-13796C>T | |
| XM_011511416.1:c.1060-13796C>T | XP_011509718.1:n.1060-13796C>T | |
| XM_011511417.1:c.1060-13796C>T | XP_011509719.1:n.1060-13796C>T | |
| XM_011511418.1:c.1060-13796C>T | XP_011509720.1:n.1060-13796C>T | |
| XM_011511419.1:c.1059+16186C>T | XP_011509721.1:n.1059+16186C>T | |
| XM_011511420.1:c.1060-13796C>T | XP_011509722.1:n.1060-13796C>T | |
| XM_011511421.1:c.1060-13796C>T | XP_011509723.1:n.1060-13796C>T | |
| XM_011511422.1:c.1060-13796C>T | XP_011509724.1:n.1060-13796C>T | |
| XM_011511423.1:c.1060-13796C>T | XP_011509725.1:n.1060-13796C>T | |
| XM_011511424.1:c.1060-13796C>T | XP_011509726.1:n.1060-13796C>T | |
| XM_011511425.1:c.1060-13796C>T | XP_011509727.1:n.1060-13796C>T | |
| XM_011511426.1:c.1060-13796C>T | XP_011509728.1:n.1060-13796C>T | |
| XM_011511427.1:c.1060-13796C>T | XP_011509729.1:n.1060-13796C>T | |
| XM_011511428.1:c.1060-13796C>T | XP_011509730.1:n.1060-13796C>T | |
| XM_011511429.1:c.1060-13796C>T | XP_011509731.1:n.1060-13796C>T | |
| XM_011511430.1:c.1060-13796C>T | XP_011509732.1:n.1060-13796C>T | |
| XM_011511431.1:c.1060-13796C>T | XP_011509733.1:n.1060-13796C>T | |
| XM_011511432.1:c.1060-13796C>T | XP_011509734.1:n.1060-13796C>T | |
| XM_011511433.1:c.1060-13796C>T | XP_011509735.1:n.1060-13796C>T | |
| XM_011511434.1:c.199-13796C>T | XP_011509736.1:n.199-13796C>T | |
| XR_922958.1:n.1318-13796C>T | ||
| XR_922959.1:n.1318-13796C>T | ||
| NM_001142807.2:c.1059+16186C>T | NP_001136279.1:n.1059+16186C>T | |
| XM_011511404.3:c.1060-13796C>T | XP_011509706.1:n.1060-13796C>T | |
| XM_011511405.3:c.1060-13796C>T | XP_011509707.1:n.1060-13796C>T | |
| XM_011511406.3:c.1060-13796C>T | XP_011509708.1:n.1060-13796C>T | |
| XM_011511407.3:c.1048-13796C>T | XP_011509709.1:n.1048-13796C>T | |
| XM_011511411.3:c.943-13796C>T | XP_011509713.1:n.943-13796C>T | |
| XM_011511414.3:c.1060-13796C>T | XP_011509716.1:n.1060-13796C>T | |
| XM_011511415.2:c.1060-13796C>T | XP_011509717.1:n.1060-13796C>T | |
| XM_011511416.2:c.1060-13796C>T | XP_011509718.1:n.1060-13796C>T | |
| XM_011511419.2:c.1059+16186C>T | XP_011509721.1:n.1059+16186C>T | |
| XM_011511420.2:c.1060-13796C>T | XP_011509722.1:n.1060-13796C>T | |
| XM_011511421.2:c.1060-13796C>T | XP_011509723.1:n.1060-13796C>T | |
| XM_011511427.2:c.1060-13796C>T | XP_011509729.1:n.1060-13796C>T | |
| XM_011511428.3:c.1060-13796C>T | XP_011509730.1:n.1060-13796C>T | |
| XM_011511429.2:c.1060-13796C>T | XP_011509731.1:n.1060-13796C>T | |
| XM_011511432.3:c.1060-13796C>T | XP_011509734.1:n.1060-13796C>T | |
| XM_011511434.3:c.199-13796C>T | XP_011509736.1:n.199-13796C>T | |
| XM_017004431.1:c.943-13796C>T | XP_016859920.1:n.943-13796C>T | |
| XM_017004433.2:c.331-13796C>T | XP_016859922.1:n.331-13796C>T | |
| XM_017004434.2:c.199-13796C>T | XP_016859923.1:n.199-13796C>T | |
| XR_001738822.1:n.1318-13796C>T | ||
| XR_001738823.2:n.1317+16186C>T | ||
| NM_001142807.4:c.1059+16186C>T MANE Select | NP_001136279.1:n.1059+16186C>T | |
| NM_001371254.1:c.1060-13796C>T | NP_001358183.1:n.1060-13796C>T |