gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31240956 (NFE)
Genomes Max Group AF
0.31240956 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5517909G>A , CM000673.2:g.5517909G>A | GRCh38 |
| NC_000011.9:g.5539139G>A , CM000673.1:g.5539139G>A | GRCh37 |
| NC_000011.8:g.5495715G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380259.7:c.982+72916C>T | ENSP00000369609.3:n.982+72916C>T | |
| ENST00000673910.1:c.-2+401C>T (UBQLNL) | ENSP00000501246.1:n.-2+401C>T | |
| ENST00000380259.6:c.-565+72916C>T (HBG2) | ENSP00000369609.2:n.-565+72916C>T | |
| XM_011520533.1:c.*113+401C>T (OLFM5P) | XP_011518835.1:n.*113+401C>T |