gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44141305 (AFR)
Genomes Max Group AF
0.44141305 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10670842C>T , CM000679.2:g.10670842C>T | GRCh38 |
| NC_000017.10:g.10574159C>T , CM000679.1:g.10574159C>T | GRCh37 |
| NC_000017.9:g.10514884C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011523870.1:c.-68+7428G>A | XP_011522172.1:n.-68+7428G>A | |
| XM_011523872.1:c.-68+7428G>A | XP_011522174.1:n.-68+7428G>A | |
| XM_011523870.3:c.-68+7428G>A | XP_011522172.1:n.-68+7428G>A |