gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2545604 (AFR)
Genomes Max Group AF
0.2545604 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32690578C>T , CM000681.2:g.32690578C>T | GRCh38 |
| NC_000019.9:g.33181484C>T , CM000681.1:g.33181484C>T | GRCh37 |
| NC_000019.8:g.37873324C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005258925.3:c.192+17105C>T | XP_005258982.1:n.192+17105C>T | |
| XR_935915.1:n.397+785G>A |