Revel Score:
ENST00000329464 (MANE Select)
0.389
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006806 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00006784 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44755264T>G , CM000677.2:g.44755264T>G | GRCh38 |
| NC_000015.9:g.45047462T>G , CM000677.1:g.45047462T>G | GRCh37 |
| NC_000015.8:g.42834754T>G | NCBI36 |
| NG_033935.1:g.23903T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329464.9:c.371T>G MANE Select | ENSP00000332284.3:p.Leu124Arg | |
| ENST00000329464.8:c.371T>G | ENSP00000332284.3:p.Leu124Arg | |
| ENST00000338264.8:c.7-1104T>G | ENSP00000342922.4:n.7-1104T>G | |
| ENST00000558173.5:n.2347T>G | ||
| ENST00000558329.5:c.-137-1104T>G | ENSP00000453332.1:n.-137-1104T>G | |
| ENST00000559390.5:c.371T>G | ENSP00000453177.1:p.Leu124Arg | |
| ENST00000560442.5:c.-137-1104T>G | ENSP00000453549.1:n.-137-1104T>G | |
| ENST00000561043.5:c.7-1104T>G | ENSP00000453077.1:n.7-1104T>G | |
| NM_001301144.1:c.-137-1104T>G | NP_001288073.1:n.-137-1104T>G | |
| NM_001301145.1:c.-137-1104T>G | NP_001288074.1:n.-137-1104T>G | |
| NM_001301146.1:c.7-1104T>G | NP_001288075.1:n.7-1104T>G | |
| NM_080745.4:c.7-1104T>G | NP_542783.2:n.7-1104T>G | |
| NM_182985.4:c.371T>G | NP_892030.3:p.Leu124Arg | |
| NM_182985.5:c.371T>G MANE Select | NP_892030.3:p.Leu124Arg | |
| NM_001301144.2:c.-137-1104T>G | NP_001288073.1:n.-137-1104T>G | |
| NM_001301145.2:c.-137-1104T>G | NP_001288074.1:n.-137-1104T>G | |
| NM_001301146.2:c.7-1104T>G | NP_001288075.1:n.7-1104T>G | |
| NM_080745.5:c.7-1104T>G | NP_542783.2:n.7-1104T>G |