gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00039912 (AFR)
Genomes Max Group AF
0.00039912 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34809752G>A , CM000683.2:g.34809752G>A | GRCh38 |
| NC_000021.8:g.36182049G>A , CM000683.1:g.36182049G>A | GRCh37 |
| NC_000021.7:g.35103919G>A | NCBI36 |
| NG_011402.2:g.1179960C>T , LRG_482:g.1179960C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.806-10290C>T MANE Select | ENSP00000501943.1:n.806-10290C>T | |
| ENST00000300305.7:c.806-10290C>T | ENSP00000300305.3:n.806-10290C>T | |
| ENST00000344691.8:c.725-10290C>T | ENSP00000340690.4:n.725-10290C>T | |
| ENST00000399240.5:c.533-10290C>T | ENSP00000382184.1:n.533-10290C>T | |
| ENST00000437180.5:c.806-10290C>T | ENSP00000409227.1:n.806-10290C>T | |
| ENST00000482318.5:c.*396-10290C>T | ENSP00000477067.1:n.*396-10290C>T | |
| NM_001001890.2:c.725-10290C>T | NP_001001890.1:n.725-10290C>T | |
| NM_001754.4:c.806-10290C>T , LRG_482t1:c.806-10290C>T | NP_001745.2:n.806-10290C>T | |
| XM_005261068.3:c.770-10290C>T | XP_005261125.1:n.770-10290C>T | |
| XM_005261069.3:c.614-10290C>T | XP_005261126.1:n.614-10290C>T | |
| XM_011529766.1:c.806-10290C>T | XP_011528068.1:n.806-10290C>T | |
| XM_011529767.1:c.767-10290C>T | XP_011528069.1:n.767-10290C>T | |
| XM_011529768.1:c.575-10290C>T | XP_011528070.1:n.575-10290C>T | |
| XR_937576.1:n.985-10290C>T | ||
| XM_005261069.4:c.614-10290C>T | XP_005261126.1:n.614-10290C>T | |
| XM_011529766.2:c.806-10290C>T | XP_011528068.1:n.806-10290C>T | |
| XM_011529767.2:c.767-10290C>T | XP_011528069.1:n.767-10290C>T | |
| XM_011529768.2:c.575-10290C>T | XP_011528070.1:n.575-10290C>T | |
| XM_017028487.1:c.653-10290C>T | XP_016883976.1:n.653-10290C>T | |
| XR_937576.2:n.1032-10290C>T | ||
| NM_001001890.3:c.725-10290C>T | NP_001001890.1:n.725-10290C>T | |
| NM_001754.5:c.806-10290C>T MANE Select | NP_001745.2:n.806-10290C>T |