Revel Score:
ENST00000334909
0.928
ENST00000352480 (MANE Select)
0.928
ENST00000372394
0.928
ENST00000372393
0.928
ENST00000372386
0.928
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009275 (NFE)
Genomes Max Group AF
0.00003762 (NFE)
Exomes Max Group AF
0.0000938 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480398G>A , CM000671.2:g.130480398G>A | GRCh38 |
| NC_000009.11:g.133355785G>A , CM000671.1:g.133355785G>A | GRCh37 |
| NC_000009.10:g.132345606G>A | NCBI36 |
| NG_011542.1:g.40692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.787G>A MANE Select | ENSP00000253004.6:p.Val263Met | |
| ENST00000352480.9:c.787G>A | ENSP00000253004.6:p.Val263Met | |
| ENST00000372386.6:n.58G>A | ||
| ENST00000372393.7:c.787G>A | ENSP00000361469.2:p.Val263Met | |
| ENST00000372394.5:c.787G>A | ENSP00000361471.1:p.Val263Met | |
| ENST00000470849.4:n.512G>A | ||
| ENST00000492400.5:n.296G>A | ||
| ENST00000493984.6:n.564G>A | ||
| NM_000050.4:c.787G>A | NP_000041.2:p.Val263Met | |
| NM_054012.3:c.787G>A | NP_446464.1:p.Val263Met | |
| XM_005272200.2:c.787G>A | XP_005272257.1:p.Val263Met | |
| XM_011518705.1:c.901G>A | XP_011517007.1:p.Val301Met | |
| XM_005272200.3:c.787G>A | XP_005272257.1:p.Val263Met | |
| XM_011518705.2:c.901G>A | XP_011517007.1:p.Val301Met | |
| XM_017014729.1:c.883G>A | XP_016870218.1:p.Val295Met | |
| NM_054012.4:c.787G>A MANE Select | NP_446464.1:p.Val263Met |