Revel Score:
ENST00000380224 (MANE Select)
0.327
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013166 (NFE)
Genomes Max Group AF
0.00005844 (NFE)
Exomes Max Group AF
0.00013299 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5301601C>T , CM000673.2:g.5301601C>T | GRCh38 |
| NC_000011.9:g.5322831C>T , CM000673.1:g.5322831C>T | GRCh37 |
| NC_000011.8:g.5279407C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292896.3:c.-266-31445G>A (HBE1) | ENSP00000292896.2:n.-266-31445G>A | |
| ENST00000380224.2:c.346G>A (OR51B4) MANE Select | ENSP00000369573.1:p.Ala116Thr | |
| ENST00000380252.6:c.-73-47087G>A (HBG2) | ENSP00000369602.2:n.-73-47087G>A | |
| ENST00000380259.7:c.1109+44172G>A | ENSP00000369609.3:n.1109+44172G>A | |
| ENST00000643199.1:n.90-31445G>A | ||
| ENST00000646569.1:n.58+26755G>A | ||
| ENST00000380224.1:c.346G>A (OR51B4) | ENSP00000369573.1:p.Ala116Thr | |
| ENST00000380237.5:c.-309-19650G>A (HBE1) | ENSP00000369586.1:n.-309-19650G>A | |
| ENST00000380252.5:c.63-47087G>A (HBG2) | ENSP00000369602.1:n.63-47087G>A | |
| ENST00000380259.6:c.-438+44172G>A (HBG2) | ENSP00000369609.2:n.-438+44172G>A | |
| ENST00000396895.1:c.-266-31445G>A (HBE1) | ENSP00000380104.1:n.-266-31445G>A | |
| NM_033179.2:c.346G>A (OR51B4) MANE Select | NP_149419.2:p.Ala116Thr |