Revel Score:
ENST00000370258
0.556
ENST00000370263 (MANE Select)
0.556
ENST00000539366
0.556
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022538 (MID)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00023608 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350969G>A , CM000682.2:g.63350969G>A | GRCh38 |
| NC_000020.10:g.61982321G>A , CM000682.1:g.61982321G>A | GRCh37 |
| NC_000020.9:g.61452765G>A | NCBI36 |
| NG_011931.1:g.15375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.442C>T MANE Select | ENSP00000359285.4:p.Arg148Trp | |
| ENST00000370263.8:c.442C>T | ENSP00000359285.4:p.Arg148Trp | |
| ENST00000463705.5:n.1090C>T | ||
| ENST00000467563.3:n.512C>T | ||
| ENST00000498043.6:c.466C>T | ||
| ENST00000615287.4:c.229C>T | ENSP00000483388.1:p.Arg77Trp | |
| ENST00000627000.1:c.*131C>T | ENSP00000486914.1:n.*131C>T | |
| ENST00000628665.1:n.485C>T | ||
| ENST00000630240.1:n.163C>T | ||
| NM_000744.6:c.442C>T | NP_000735.1:p.Arg148Trp | |
| NM_001256573.1:c.-87C>T | NP_001243502.1:n.-87C>T | |
| NR_046317.1:n.698C>T | ||
| XM_011528524.1:c.229C>T | XP_011526826.1:p.Arg77Trp | |
| XM_017027625.2:c.-87C>T | XP_016883114.1:n.-87C>T | |
| XM_024451822.1:c.-87C>T | XP_024307590.1:n.-87C>T | |
| NM_001256573.2:c.-87C>T | NP_001243502.1:n.-87C>T | |
| NR_046317.2:n.651C>T | ||
| NM_000744.7:c.442C>T MANE Select | NP_000735.1:p.Arg148Trp |