gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4197879 (AFR)
Genomes Max Group AF
0.4197879 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5322517G>T , CM000673.2:g.5322517G>T | GRCh38 |
| NC_000011.9:g.5343747G>T , CM000673.1:g.5343747G>T | GRCh37 |
| NC_000011.8:g.5300323G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292896.3:c.-266-52361C>A (HBE1) | ENSP00000292896.2:n.-266-52361C>A | |
| ENST00000380252.6:c.-73-68003C>A (HBG2) | ENSP00000369602.2:n.-73-68003C>A | |
| ENST00000380259.7:c.1109+23256C>A | ENSP00000369609.3:n.1109+23256C>A | |
| ENST00000420465.6:n.300-16840C>A (OR51B5) | ||
| ENST00000420726.6:n.300-18040C>A (OR51B5) | ||
| ENST00000643199.1:n.89+23256C>A | ||
| ENST00000646569.1:n.58+5839C>A | ||
| ENST00000380237.5:c.-309-40566C>A (HBE1) | ENSP00000369586.1:n.-309-40566C>A | |
| ENST00000380252.5:c.63-68003C>A (HBG2) | ENSP00000369602.1:n.63-68003C>A | |
| ENST00000380259.6:c.-438+23256C>A (HBG2) | ENSP00000369609.2:n.-438+23256C>A | |
| ENST00000396895.1:c.-266-52361C>A (HBE1) | ENSP00000380104.1:n.-266-52361C>A |