Revel Score:
ENST00000409155 (MANE Select)
0.709
ENST00000277315
0.709
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000803 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113389521G>A , CM000671.2:g.113389521G>A | GRCh38 |
| NC_000009.11:g.116151801G>A , CM000671.1:g.116151801G>A | GRCh37 |
| NC_000009.10:g.115191622G>A | NCBI36 |
| NG_008716.1:g.16818C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.718C>T MANE Select | ENSP00000386284.3:p.Arg240Trp | |
| ENST00000409155.7:c.718C>T | ENSP00000386284.3:p.Arg240Trp | |
| ENST00000482847.5:n.991C>T | ||
| NM_000031.5:c.718C>T | NP_000022.3:p.Arg240Trp | |
| XM_005251799.1:c.805C>T | XP_005251856.1:p.Arg269Trp | |
| XM_011518363.1:c.844C>T | XP_011516665.1:p.Arg282Trp | |
| XM_011518364.1:c.745C>T | XP_011516666.1:p.Arg249Trp | |
| NM_001003945.2:c.805C>T | NP_001003945.1:p.Arg269Trp | |
| NM_001317745.1:c.694C>T | NP_001304674.1:p.Arg232Trp | |
| XM_011518364.2:c.745C>T | XP_011516666.1:p.Arg249Trp | |
| XM_024447449.1:c.805C>T | XP_024303217.1:p.Arg269Trp | |
| NM_000031.6:c.718C>T MANE Select | NP_000022.3:p.Arg240Trp | |
| NM_001003945.3:c.805C>T | NP_001003945.1:p.Arg269Trp | |
| NM_001317745.2:c.694C>T | NP_001304674.1:p.Arg232Trp |