Revel Score:
ENST00000379374 (MANE Select)
0.858
ENST00000537599
0.858
ENST00000535894
0.858
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22077542C>T , CM000685.2:g.22077542C>T | GRCh38 |
| NC_000023.10:g.22095660C>T , CM000685.1:g.22095660C>T | GRCh37 |
| NC_000023.9:g.22005581C>T | NCBI36 |
| NG_007563.2:g.49740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.929C>T | ||
| ENST00000683214.1:n.611C>T | ||
| ENST00000684143.1:c.500C>T | ENSP00000508264.1:p.Pro167Leu | |
| ENST00000684745.1:n.177C>T | ||
| ENST00000379374.5:c.503C>T MANE Select | ENSP00000368682.4:p.Pro168Leu | |
| ENST00000379374.4:c.503C>T | ENSP00000368682.4:p.Pro168Leu | |
| NM_000444.5:c.503C>T | NP_000435.3:p.Pro168Leu | |
| NM_001282754.1:c.503C>T | NP_001269683.1:p.Pro168Leu | |
| XM_011545535.1:c.503C>T | XP_011543837.1:p.Pro168Leu | |
| XM_017029579.1:c.-93-12887C>T | XP_016885068.1:n.-93-12887C>T | |
| XM_024452390.1:c.212C>T | XP_024308158.1:p.Pro71Leu | |
| XR_001755695.1:n.1182C>T | ||
| NM_000444.6:c.503C>T MANE Select | NP_000435.3:p.Pro168Leu | |
| NM_001282754.2:c.503C>T | NP_001269683.1:p.Pro168Leu |