Revel Score:
ENST00000241041
0.656
ENST00000378750 (MANE Select)
0.656
ENST00000532681
0.656
ENST00000533151
0.656
ENST00000525192
0.656
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000005 (NFE)
Exomes Max Group AF
0.00000531 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45914331G>A , CM000673.2:g.45914331G>A | GRCh38 |
| NC_000011.9:g.45935882G>A , CM000673.1:g.45935882G>A | GRCh37 |
| NC_000011.8:g.45892458G>A | NCBI36 |
| NG_008460.1:g.8793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.679C>T MANE Select | ENSP00000368024.5:p.Arg227Trp | |
| ENST00000241041.7:c.679C>T | ENSP00000241041.3:p.Arg227Trp | |
| ENST00000378750.9:c.679C>T | ENSP00000368024.5:p.Arg227Trp | |
| ENST00000525192.5:c.394C>T | ENSP00000431309.1:p.Arg132Trp | |
| ENST00000527371.1:n.295C>T | ||
| ENST00000532554.5:n.450C>T | ||
| ENST00000532681.5:c.394C>T | ENSP00000434654.1:p.Arg132Trp | |
| ENST00000533151.5:c.367C>T | ENSP00000433045.1:p.Arg123Trp | |
| NM_004813.2:c.679C>T | NP_004804.1:p.Arg227Trp | |
| NM_057174.2:c.679C>T | NP_476515.1:p.Arg227Trp | |
| XM_011520474.1:c.556C>T | XP_011518776.1:p.Arg186Trp | |
| NM_004813.3:c.679C>T | NP_004804.1:p.Arg227Trp | |
| NM_004813.4:c.679C>T MANE Select | NP_004804.2:p.Arg227Trp | |
| NM_057174.3:c.679C>T | NP_476515.2:p.Arg227Trp |