Revel Score:
ENST00000329464 (MANE Select)
0.685
ENST00000338264
0.685
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001539 (EAS)
Genomes Max Group AF
0.00063195 (EAS)
Exomes Max Group AF
0.00004907 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44767673C>A , CM000677.2:g.44767673C>A | GRCh38 |
| NC_000015.9:g.45059871C>A , CM000677.1:g.45059871C>A | GRCh37 |
| NC_000015.8:g.42847163C>A | NCBI36 |
| NG_033935.1:g.36312C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329464.9:c.1404C>A MANE Select | ENSP00000332284.3:p.Phe468Leu | |
| ENST00000329464.8:c.1404C>A | ENSP00000332284.3:p.Phe468Leu | |
| ENST00000338264.8:c.927C>A | ENSP00000342922.4:p.Phe309Leu | |
| ENST00000558173.5:n.5537C>A | ||
| ENST00000558329.5:c.741C>A | ENSP00000453332.1:p.Phe247Leu | |
| ENST00000559390.5:c.1404C>A | ENSP00000453177.1:p.Phe468Leu | |
| ENST00000560442.5:c.792C>A | ENSP00000453549.1:p.Phe264Leu | |
| ENST00000561043.5:c.693C>A | ENSP00000453077.1:p.Phe231Leu | |
| NM_001301144.1:c.792C>A | NP_001288073.1:p.Phe264Leu | |
| NM_001301145.1:c.741C>A | NP_001288074.1:p.Phe247Leu | |
| NM_001301146.1:c.693C>A | NP_001288075.1:p.Phe231Leu | |
| NM_080745.4:c.927C>A | NP_542783.2:p.Phe309Leu | |
| NM_182985.4:c.1404C>A | NP_892030.3:p.Phe468Leu | |
| NM_182985.5:c.1404C>A MANE Select | NP_892030.3:p.Phe468Leu | |
| NM_001301144.2:c.792C>A | NP_001288073.1:p.Phe264Leu | |
| NM_001301145.2:c.741C>A | NP_001288074.1:p.Phe247Leu | |
| NM_001301146.2:c.693C>A | NP_001288075.1:p.Phe231Leu | |
| NM_080745.5:c.927C>A | NP_542783.2:p.Phe309Leu |