Revel Score:
ENST00000375018
0.067
ENST00000353234 (MANE Select)
0.067
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00307218 (NFE)
Genomes Max Group AF
0.00259651 (NFE)
Exomes Max Group AF
0.00308481 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98796299C>A , CM000671.2:g.98796299C>A | GRCh38 |
| NC_000009.11:g.101558581C>A , CM000671.1:g.101558581C>A | GRCh37 |
| NC_000009.10:g.100598402C>A | NCBI36 |
| NG_042237.1:g.5244G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353234.5:c.193G>T MANE Select | ENSP00000297837.6:p.Val65Phe | |
| ENST00000353234.4:c.193G>T | ENSP00000297837.6:p.Val65Phe | |
| ENST00000375019.6:c.-42+385G>T | ENSP00000364159.2:n.-42+385G>T | |
| ENST00000471846.1:n.241G>T | ||
| NM_173551.3:c.193G>T | NP_775822.3:p.Val65Phe | |
| NM_173551.4:c.193G>T | NP_775822.3:p.Val65Phe | |
| XM_005251793.3:c.193G>T | XP_005251850.1:p.Val65Phe | |
| XM_005251794.3:c.193G>T | XP_005251851.1:p.Val65Phe | |
| XM_006716998.2:c.193G>T | XP_006717061.1:p.Val65Phe | |
| XM_011518356.1:c.193G>T | XP_011516658.1:p.Val65Phe | |
| XR_242576.3:n.231G>T | ||
| XR_428520.2:n.232G>T | ||
| XR_929736.1:n.232G>T | ||
| XM_005251793.4:c.193G>T | XP_005251850.1:p.Val65Phe | |
| XM_005251794.4:c.193G>T | XP_005251851.1:p.Val65Phe | |
| XM_006716998.3:c.193G>T | XP_006717061.1:p.Val65Phe | |
| XM_017014445.1:c.193G>T | XP_016869934.1:p.Val65Phe | |
| XR_428520.3:n.231G>T | ||
| XR_929736.2:n.231G>T | ||
| NM_173551.5:c.193G>T MANE Select | NP_775822.3:p.Val65Phe |