gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60604932 (AFR)
Genomes Max Group AF
0.60604932 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141927349G>A , CM000669.2:g.141927349G>A | GRCh38 |
| NC_000007.13:g.141627149G>A , CM000669.1:g.141627149G>A | GRCh37 |
| NC_000007.12:g.141273618G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-179-18472G>A (MGAM) | ENSP00000419372.1:n.-179-18472G>A | |
| ENST00000497554.1:n.37-2428G>A (MGAM) | ||
| XM_011515783.1:c.*24+7505G>A (OR9A4) | XP_011514085.1:n.*24+7505G>A |