Revel Score:
ENST00000292408 (MANE Select)
0.479
ENST00000502906
0.479
ENST00000377207
0.479
ENST00000511076
0.097
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177093242G>T , CM000667.2:g.177093242G>T | GRCh38 |
| NC_000005.9:g.176520243G>T , CM000667.1:g.176520243G>T | GRCh37 |
| NC_000005.8:g.176452849G>T | NCBI36 |
| NG_012067.1:g.11323G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.1162G>T MANE Select | ENSP00000292408.4:p.Gly388Trp | |
| ENST00000292408.8:c.1162G>T | ENSP00000292408.4:p.Gly388Trp | |
| ENST00000393637.5:c.1058-90G>T | ENSP00000377254.1:n.1058-90G>T | |
| ENST00000393648.6:c.1097+65G>T | ENSP00000377259.2:n.1097+65G>T | |
| ENST00000502906.5:c.1162G>T | ENSP00000424960.1:p.Gly388Trp | |
| ENST00000508139.1:n.466G>T | ||
| ENST00000511076.1:c.68G>T | ||
| NM_001291980.1:c.1097+65G>T | NP_001278909.1:n.1097+65G>T | |
| NM_002011.4:c.1162G>T | NP_002002.3:p.Gly388Trp | |
| NM_022963.3:c.1058-90G>T | NP_075252.2:n.1058-90G>T | |
| NM_213647.2:c.1162G>T | NP_998812.1:p.Gly388Trp | |
| XM_005265838.2:c.1162G>T | XP_005265895.1:p.Gly388Trp | |
| XM_011534464.1:c.1255G>T | XP_011532766.1:p.Gly419Trp | |
| XM_011534465.1:c.844G>T | XP_011532767.1:p.Gly282Trp | |
| XR_941090.1:n.1207G>T | ||
| NM_001354984.1:c.1162G>T | NP_001341913.1:p.Gly388Trp | |
| NM_213647.3:c.1162G>T MANE Select | NP_998812.1:p.Gly388Trp | |
| NM_001291980.2:c.1097+65G>T | NP_001278909.1:n.1097+65G>T | |
| NM_001354984.2:c.1162G>T | NP_001341913.1:p.Gly388Trp | |
| NM_002011.5:c.1162G>T | NP_002002.3:p.Gly388Trp |