gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07641559 (AFR)
Genomes Max Group AF
0.07642303 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132531G>A , CM000684.2:g.42132531G>A | GRCh38 |
| NC_000022.10:g.42528538G>A , CM000684.1:g.42528538G>A | GRCh37 |
| NC_000022.9:g.40858482G>A | NCBI36 |
| NG_008376.3:g.2461C>T | |
| NG_008376.4:g.3280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529967.1:c.-1045-695C>T | XP_011528269.1:n.-1045-695C>T |