Revel Score:
ENST00000370258
0.876
ENST00000370263 (MANE Select)
0.876
ENST00000539366
0.876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350572G>C , CM000682.2:g.63350572G>C | GRCh38 |
| NC_000020.10:g.61981924G>C , CM000682.1:g.61981924G>C | GRCh37 |
| NC_000020.9:g.61452368G>C | NCBI36 |
| NG_011931.1:g.15772C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.839C>G MANE Select | ENSP00000359285.4:p.Ser280Cys | |
| ENST00000370263.8:c.839C>G | ENSP00000359285.4:p.Ser280Cys | |
| ENST00000463705.5:n.1487C>G | ||
| ENST00000467563.3:n.909C>G | ||
| ENST00000498043.6:c.863C>G | ||
| ENST00000615287.4:c.626C>G | ENSP00000483388.1:p.Ser209Cys | |
| ENST00000627000.1:c.*528C>G | ENSP00000486914.1:n.*528C>G | |
| ENST00000630240.1:n.560C>G | ||
| NM_000744.6:c.839C>G | NP_000735.1:p.Ser280Cys | |
| NM_001256573.1:c.311C>G | NP_001243502.1:p.Ser104Cys | |
| NR_046317.1:n.1095C>G | ||
| XM_011528524.1:c.626C>G | XP_011526826.1:p.Ser209Cys | |
| XM_017027625.2:c.311C>G | XP_016883114.1:p.Ser104Cys | |
| XM_024451822.1:c.311C>G | XP_024307590.1:p.Ser104Cys | |
| NM_001256573.2:c.311C>G | NP_001243502.1:p.Ser104Cys | |
| NR_046317.2:n.1048C>G | ||
| NM_000744.7:c.839C>G MANE Select | NP_000735.1:p.Ser280Cys |