gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98268484 (AFR)
Genomes Max Group AF
0.98268484 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5285279G>A , CM000673.2:g.5285279G>A | GRCh38 |
| NC_000011.9:g.5306509G>A , CM000673.1:g.5306509G>A | GRCh37 |
| NC_000011.8:g.5263085G>A | NCBI36 |
| NG_000007.3:g.12337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292896.3:c.-266-15123C>T (HBE1) | ENSP00000292896.2:n.-266-15123C>T | |
| ENST00000380252.6:c.-73-30765C>T (HBG2) | ENSP00000369602.2:n.-73-30765C>T | |
| ENST00000380259.7:c.1110-30114C>T | ENSP00000369609.3:n.1110-30114C>T | |
| ENST00000643199.1:n.90-15123C>T | ||
| ENST00000646569.1:n.59-25742C>T | ||
| ENST00000380237.5:c.-309-3328C>T (HBE1) | ENSP00000369586.1:n.-309-3328C>T | |
| ENST00000380252.5:c.63-30765C>T (HBG2) | ENSP00000369602.1:n.63-30765C>T | |
| ENST00000380259.6:c.-437-30114C>T (HBG2) | ENSP00000369609.2:n.-437-30114C>T | |
| ENST00000396895.1:c.-266-15123C>T (HBE1) | ENSP00000380104.1:n.-266-15123C>T |