gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3622685 (AFR)
Genomes Max Group AF
0.3622685 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122201839C>G , CM000665.2:g.122201839C>G | GRCh38 |
| NC_000003.11:g.121920686C>G , CM000665.1:g.121920686C>G | GRCh37 |
| NC_000003.10:g.123403376C>G | NCBI36 |
| NG_009058.1:g.23157C>G | |
| NG_009058.2:g.23172C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498619.4:c.-243+17310C>G | ENSP00000420194.1:n.-243+17310C>G | |
| ENST00000638421.1:c.-243+17310C>G | ENSP00000492190.1:n.-243+17310C>G | |
| ENST00000639785.2:c.-243+18027C>G MANE Select | ENSP00000491584.2:n.-243+18027C>G | |
| ENST00000643573.1:n.98+17310C>G | ||
| ENST00000490131.5:c.-243+18027C>G | ENSP00000418685.1:n.-243+18027C>G | |
| ENST00000498619.2:c.-243+17310C>G | ENSP00000420194.1:n.-243+17310C>G | |
| NM_000388.3:c.-243+18027C>G | NP_000379.2:n.-243+18027C>G | |
| NM_001178065.1:c.-243+17310C>G | NP_001171536.1:n.-243+17310C>G | |
| XM_005247836.2:c.-243+17657C>G | XP_005247893.1:n.-243+17657C>G | |
| XM_006713789.2:c.-243+17310C>G | XP_006713852.1:n.-243+17310C>G | |
| XM_011513237.1:c.-2263+17310C>G | XP_011511539.1:n.-2263+17310C>G | |
| XM_011513238.1:c.-2263+18027C>G | XP_011511540.1:n.-2263+18027C>G | |
| XM_006713789.3:c.-243+17310C>G | XP_006713852.1:n.-243+17310C>G | |
| NM_000388.4:c.-243+18027C>G MANE Select | NP_000379.3:n.-243+18027C>G | |
| NM_001178065.2:c.-243+17310C>G | NP_001171536.2:n.-243+17310C>G |