gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11280924 (AFR)
Genomes Max Group AF
0.11280924 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122370032A>G , CM000671.2:g.122370032A>G | GRCh38 |
| NC_000009.11:g.125132311A>G , CM000671.1:g.125132311A>G | GRCh37 |
| NC_000009.10:g.124172132A>G | NCBI36 |
| NG_032900.1:g.4083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_024447614.1:c.-1085+43A>G | XP_024303382.1:n.-1085+43A>G | |
| XM_024447615.1:c.-1085+43A>G | XP_024303383.1:n.-1085+43A>G |