gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37014084 (AMR)
Genomes Max Group AF
0.37014084 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50374423G>A , CM000681.2:g.50374423G>A | GRCh38 |
| NC_000019.9:g.50877680G>A , CM000681.1:g.50877680G>A | GRCh37 |
| NC_000019.8:g.55569492G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652203.1:c.-128+1438G>A | ENSP00000499121.1:n.-128+1438G>A | |
| ENST00000593532.5:c.-470+1438G>A | ENSP00000472271.1:n.-470+1438G>A | |
| ENST00000600355.5:c.-128+1438G>A | ENSP00000473099.1:n.-128+1438G>A |