gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83980561 (SAS)
Genomes Max Group AF
0.83980561 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64710591G>A , CM000673.2:g.64710591G>A | GRCh38 |
| NC_000011.9:g.64478063G>A , CM000673.1:g.64478063G>A | GRCh37 |
| NC_000011.8:g.64234639G>A | NCBI36 |
| NG_047107.1:g.17598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704781.1:c.730+2379C>T | ENSP00000516029.1:n.730+2379C>T | |
| ENST00000704782.1:c.730+2379C>T | ENSP00000516031.1:n.730+2379C>T | |
| ENST00000409571.6:c.730+2379C>T | ENSP00000386416.1:n.730+2379C>T | |
| ENST00000417749.6:c.730+2379C>T | ENSP00000411271.2:n.730+2379C>T | |
| ENST00000437746.2:c.730+2379C>T | ENSP00000412211.2:n.730+2379C>T | |
| ENST00000688050.1:c.730+2379C>T | ENSP00000509497.1:n.730+2379C>T | |
| ENST00000265459.11:c.730+2379C>T MANE Select | ENSP00000265459.5:n.730+2379C>T | |
| ENST00000265459.10:c.730+2379C>T | ENSP00000265459.5:n.730+2379C>T | |
| ENST00000377551.5:c.730+2379C>T | ENSP00000366774.1:n.730+2379C>T | |
| ENST00000377559.7:c.730+2379C>T | ENSP00000366782.3:n.730+2379C>T | |
| ENST00000409571.5:c.730+2379C>T | ENSP00000386416.1:n.730+2379C>T | |
| ENST00000417749.5:c.12+2379C>T | ||
| ENST00000437746.1:c.128+2379C>T | ||
| ENST00000442300.5:c.43+2112C>T | ENSP00000388971.1:n.43+2112C>T | |
| ENST00000466324.1:n.974+2379C>T | ||
| NM_015080.3:c.730+2379C>T | NP_055895.1:n.730+2379C>T | |
| NM_138732.2:c.730+2379C>T | NP_620060.1:n.730+2379C>T | |
| XM_005274400.3:c.730+2379C>T | XP_005274457.1:n.730+2379C>T | |
| XM_005274401.3:c.730+2379C>T | XP_005274458.1:n.730+2379C>T | |
| XM_005274402.3:c.730+2379C>T | XP_005274459.1:n.730+2379C>T | |
| XM_006718742.2:c.730+2379C>T | XP_006718805.2:n.730+2379C>T | |
| XM_006718745.2:c.730+2379C>T | XP_006718808.2:n.730+2379C>T | |
| XM_011545365.1:c.730+2379C>T | XP_011543667.1:n.730+2379C>T | |
| XM_011545366.1:c.730+2379C>T | XP_011543668.1:n.730+2379C>T | |
| XM_011545367.1:c.730+2379C>T | XP_011543669.1:n.730+2379C>T | |
| XM_011545368.1:c.730+2379C>T | XP_011543670.1:n.730+2379C>T | |
| XM_011545369.1:c.730+2379C>T | XP_011543671.1:n.730+2379C>T | |
| XM_011545370.1:c.730+2379C>T | XP_011543672.1:n.730+2379C>T | |
| XM_011545371.1:c.730+2379C>T | XP_011543673.1:n.730+2379C>T | |
| XM_011545372.1:c.730+2379C>T | XP_011543674.1:n.730+2379C>T | |
| XM_011545373.1:c.730+2379C>T | XP_011543675.1:n.730+2379C>T | |
| XM_011545374.1:c.730+2379C>T | XP_011543676.1:n.730+2379C>T | |
| XM_011545375.1:c.730+2379C>T | XP_011543677.1:n.730+2379C>T | |
| XM_011545376.1:c.730+2379C>T | XP_011543678.1:n.730+2379C>T | |
| XM_011545377.1:c.730+2379C>T | XP_011543679.1:n.730+2379C>T | |
| XM_011545378.1:c.730+2379C>T | XP_011543680.1:n.730+2379C>T | |
| XM_011545380.1:c.19+2063C>T | XP_011543682.1:n.19+2063C>T | |
| XM_011545383.1:c.-12+2112C>T | XP_011543685.1:n.-12+2112C>T | |
| XM_011545387.1:c.730+2379C>T | XP_011543689.1:n.730+2379C>T | |
| XR_950109.1:n.745+2379C>T | ||
| XR_950110.1:n.745+2379C>T | ||
| XR_950111.1:n.745+2379C>T | ||
| XM_017018563.1:c.730+2379C>T | XP_016874052.1:n.730+2379C>T | |
| XM_017018564.1:c.730+2379C>T | XP_016874053.1:n.730+2379C>T | |
| XM_017018565.1:c.730+2379C>T | XP_016874054.1:n.730+2379C>T | |
| XM_017018566.1:c.730+2379C>T | XP_016874055.1:n.730+2379C>T | |
| XM_017018567.1:c.730+2379C>T | XP_016874056.1:n.730+2379C>T | |
| XM_017018568.1:c.730+2379C>T | XP_016874057.1:n.730+2379C>T | |
| XM_017018569.1:c.730+2379C>T | XP_016874058.1:n.730+2379C>T | |
| XM_017018570.1:c.730+2379C>T | XP_016874059.1:n.730+2379C>T | |
| XM_017018571.1:c.730+2379C>T | XP_016874060.1:n.730+2379C>T | |
| XM_017018573.1:c.730+2379C>T | XP_016874062.1:n.730+2379C>T | |
| XM_017018578.1:c.730+2379C>T | XP_016874067.1:n.730+2379C>T | |
| XM_024448770.1:c.730+2379C>T | XP_024304538.1:n.730+2379C>T | |
| XM_024448771.1:c.730+2379C>T | XP_024304539.1:n.730+2379C>T | |
| XM_024448772.1:c.730+2379C>T | XP_024304540.1:n.730+2379C>T | |
| XM_024448773.1:c.730+2379C>T | XP_024304541.1:n.730+2379C>T | |
| XM_024448775.1:c.730+2379C>T | XP_024304543.1:n.730+2379C>T | |
| XM_024448776.1:c.730+2379C>T | XP_024304544.1:n.730+2379C>T | |
| XR_001748042.1:n.745+2379C>T | ||
| XR_001748043.2:n.745+2379C>T | ||
| XR_001748044.1:n.745+2379C>T | ||
| NM_001376262.1:c.730+2379C>T | NP_001363191.1:n.730+2379C>T | |
| NM_001376263.1:c.730+2379C>T | NP_001363192.1:n.730+2379C>T | |
| NM_001376265.1:c.730+2379C>T | NP_001363194.1:n.730+2379C>T | |
| NM_001376266.1:c.730+2379C>T | NP_001363195.1:n.730+2379C>T | |
| NM_001376267.1:c.730+2379C>T | NP_001363196.1:n.730+2379C>T | |
| NM_015080.4:c.730+2379C>T MANE Select | NP_055895.1:n.730+2379C>T | |
| NM_138732.3:c.730+2379C>T | NP_620060.1:n.730+2379C>T |