gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78900156 (AFR)
Genomes Max Group AF
0.78900156 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71269322C>T , CM000674.2:g.71269322C>T | GRCh38 |
| NC_000012.11:g.71663102C>T , CM000674.1:g.71663102C>T | GRCh37 |
| NC_000012.10:g.69949369C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393330.6:c.-110+8029G>A | ENSP00000377003.2:n.-110+8029G>A | |
| ENST00000549421.1:n.206+13394G>A |