gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55572019 (SAS)
Genomes Max Group AF
0.55572019 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65637829G>A , CM000673.2:g.65637829G>A | GRCh38 |
| NC_000011.9:g.65405300G>A , CM000673.1:g.65405300G>A | GRCh37 |
| NC_000011.8:g.65161876G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394227.7:c.-98-2995G>A | ENSP00000377774.4:n.-98-2995G>A | |
| ENST00000628801.2:c.-98-2995G>A | ENSP00000485899.1:n.-98-2995G>A |