gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2033171 (AFR)
Genomes Max Group AF
0.2033171 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32408694A>C , CM000668.2:g.32408694A>C | GRCh38 |
| NC_000006.11:g.32376471A>C , CM000668.1:g.32376471A>C | GRCh37 |
| NC_000006.10:g.32484449A>C | NCBI36 |
| NG_054759.1:g.5186T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011514755.1:c.-1571T>G | XP_011513057.1:n.-1571T>G | |
| XM_011514756.1:c.-1571T>G | XP_011513058.1:n.-1571T>G | |
| XM_017011057.1:c.-1571T>G | XP_016866546.1:n.-1571T>G |