gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43314183 (SAS)
Genomes Max Group AF
0.43406834 (SAS)
Exomes Max Group AF
0.3622968 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8462845C>T , CM000679.2:g.8462845C>T | GRCh38 |
| NC_000017.10:g.8366163C>T , CM000679.1:g.8366163C>T | GRCh37 |
| NC_000017.9:g.8306888C>T | NCBI36 |
| NG_029963.2:g.31985C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334527.12:c.944+2685C>T MANE Select | ENSP00000333982.7:n.944+2685C>T | |
| ENST00000334527.11:c.944+2685C>T | ENSP00000333982.7:n.944+2685C>T | |
| ENST00000380025.8:c.793-4085C>T | ENSP00000369364.4:n.793-4085C>T | |
| ENST00000402554.7:c.945-475C>T | ENSP00000384963.3:n.945-475C>T | |
| ENST00000581679.1:c.417+2685C>T | ||
| ENST00000583683.1:n.69C>T | ||
| ENST00000585098.5:c.172-4306C>T | ENSP00000463492.1:n.172-4306C>T | |
| NM_001025579.2:c.945-475C>T | NP_001020750.1:n.945-475C>T | |
| NM_030808.4:c.944+2685C>T | NP_110435.1:n.944+2685C>T | |
| XM_006721580.2:c.*2427C>T | XP_006721643.1:n.*2427C>T | |
| XM_011524012.1:c.944+2685C>T | XP_011522314.1:n.944+2685C>T | |
| XM_011524013.1:c.793-4085C>T | XP_011522315.1:n.793-4085C>T | |
| NM_001330129.1:c.793-4085C>T | NP_001317058.1:n.793-4085C>T | |
| XM_017025183.1:c.983+2685C>T | XP_016880672.1:n.983+2685C>T | |
| XM_017025184.1:c.983+2685C>T | XP_016880673.1:n.983+2685C>T | |
| XM_017025185.1:c.944+2685C>T | XP_016880674.1:n.944+2685C>T | |
| XM_017025186.1:c.984-475C>T | XP_016880675.1:n.984-475C>T | |
| XM_017025187.1:c.945-475C>T | XP_016880676.1:n.945-475C>T | |
| XM_017025188.1:c.832-4085C>T | XP_016880677.1:n.832-4085C>T | |
| NM_001025579.3:c.945-475C>T | NP_001020750.1:n.945-475C>T | |
| NM_001330129.2:c.793-4085C>T | NP_001317058.1:n.793-4085C>T | |
| NM_030808.5:c.944+2685C>T MANE Select | NP_110435.1:n.944+2685C>T |