Revel Score:
ENST00000262424 (MANE Select)
0.912
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0008713 (NFE)
Genomes Max Group AF
0.00067715 (NFE)
Exomes Max Group AF
0.00087341 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84868866G>A , CM000678.2:g.84868866G>A | GRCh38 |
| NC_000016.9:g.84902472G>A , CM000678.1:g.84902472G>A | GRCh37 |
| NC_000016.8:g.83459973G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262424.10:c.869G>A MANE Select | ENSP00000262424.5:p.Cys290Tyr | |
| ENST00000262424.9:c.869G>A | ENSP00000262424.5:p.Cys290Tyr | |
| ENST00000563066.5:c.398G>A | ENSP00000456952.1:p.Cys133Tyr | |
| ENST00000564567.5:c.869G>A | ENSP00000457655.1:p.Cys290Tyr | |
| ENST00000567845.5:c.866G>A | ENSP00000457183.1:p.Cys289Tyr | |
| ENST00000569262.5:n.1060G>A | ||
| NM_031476.3:c.869G>A | NP_113664.1:p.Cys290Tyr | |
| XM_005256190.1:c.869G>A | XP_005256247.1:p.Cys290Tyr | |
| XM_024450463.1:c.869G>A | XP_024306231.1:p.Cys290Tyr | |
| NM_031476.4:c.869G>A MANE Select | NP_113664.1:p.Cys290Tyr |