Revel Score:
ENST00000370258
0.873
ENST00000370263 (MANE Select)
0.873
ENST00000539366
0.873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350572G>A , CM000682.2:g.63350572G>A | GRCh38 |
| NC_000020.10:g.61981924G>A , CM000682.1:g.61981924G>A | GRCh37 |
| NC_000020.9:g.61452368G>A | NCBI36 |
| NG_011931.1:g.15772C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.839C>T MANE Select | ENSP00000359285.4:p.Ser280Phe | |
| ENST00000370263.8:c.839C>T | ENSP00000359285.4:p.Ser280Phe | |
| ENST00000463705.5:n.1487C>T | ||
| ENST00000467563.3:n.909C>T | ||
| ENST00000498043.6:c.863C>T | ||
| ENST00000615287.4:c.626C>T | ENSP00000483388.1:p.Ser209Phe | |
| ENST00000627000.1:c.*528C>T | ENSP00000486914.1:n.*528C>T | |
| ENST00000630240.1:n.560C>T | ||
| NM_000744.6:c.839C>T | NP_000735.1:p.Ser280Phe | |
| NM_001256573.1:c.311C>T | NP_001243502.1:p.Ser104Phe | |
| NR_046317.1:n.1095C>T | ||
| XM_011528524.1:c.626C>T | XP_011526826.1:p.Ser209Phe | |
| XM_017027625.2:c.311C>T | XP_016883114.1:p.Ser104Phe | |
| XM_024451822.1:c.311C>T | XP_024307590.1:p.Ser104Phe | |
| NM_001256573.2:c.311C>T | NP_001243502.1:p.Ser104Phe | |
| NR_046317.2:n.1048C>T | ||
| NM_000744.7:c.839C>T MANE Select | NP_000735.1:p.Ser280Phe |