gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51777658 (EAS)
Genomes Max Group AF
0.51777658 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10409388G>A , CM000681.2:g.10409388G>A | GRCh38 |
| NC_000019.9:g.10520064G>A , CM000681.1:g.10520064G>A | GRCh37 |
| NC_000019.8:g.10381064G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593124.1:c.-116-5793C>T | ENSP00000465724.1:n.-116-5793C>T |