Revel Score:
ENST00000429152
0.086
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00053067 (AFR)
Genomes Max Group AF
0.00045858 (AFR)
Exomes Max Group AF
0.00049341 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14076749G>A , CM000679.2:g.14076749G>A | GRCh38 |
| NC_000017.10:g.13980066G>A , CM000679.1:g.13980066G>A | GRCh37 |
| NC_000017.9:g.13920791G>A | NCBI36 |
| NG_008034.1:g.12348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.192G>A MANE Select | ENSP00000261643.3:p.Leu64= | |
| ENST00000664217.1:c.192G>A | ENSP00000499396.1:p.Leu64= | |
| ENST00000670279.1:c.192G>A | ENSP00000499450.1:p.Leu64= | |
| ENST00000261643.7:c.192G>A | ENSP00000261643.3:p.Leu64= | |
| ENST00000429152.6:c.192G>A | ENSP00000397750.2:p.Leu64= | |
| ENST00000580561.1:c.177+2293G>A | ENSP00000462190.1:n.177+2293G>A | |
| ENST00000581931.5:c.192G>A | ENSP00000462512.1:p.Leu64= | |
| NM_001303.3:c.192G>A | NP_001294.2:p.Leu64= | |
| XM_005256458.1:c.192G>A | XP_005256515.1:p.Leu64= | |
| XM_011523657.1:c.192G>A | XP_011521959.1:p.Leu64= | |
| XM_011523658.1:c.-260G>A | XP_011521960.1:n.-260G>A | |
| XR_933974.1:n.295G>A | ||
| XR_933975.1:n.295G>A | ||
| NM_001303.4:c.192G>A MANE Select | NP_001294.2:p.Leu64= |