Revel Score:
ENST00000379374 (MANE Select)
0.934
ENST00000537599
0.934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22047116G>T , CM000685.2:g.22047116G>T | GRCh38 |
| NC_000023.10:g.22065234G>T , CM000685.1:g.22065234G>T | GRCh37 |
| NC_000023.9:g.21975155G>T | NCBI36 |
| NG_007563.2:g.19314G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.680G>T | ||
| ENST00000683214.1:n.544+13993G>T | ||
| ENST00000684143.1:c.254G>T | ENSP00000508264.1:p.Cys85Phe | |
| ENST00000379374.5:c.254G>T MANE Select | ENSP00000368682.4:p.Cys85Phe | |
| ENST00000379374.4:c.254G>T | ENSP00000368682.4:p.Cys85Phe | |
| NM_000444.5:c.254G>T | NP_000435.3:p.Cys85Phe | |
| NM_001282754.1:c.254G>T | NP_001269683.1:p.Cys85Phe | |
| XM_011545535.1:c.254G>T | XP_011543837.1:p.Cys85Phe | |
| XM_024452390.1:c.-38G>T | XP_024308158.1:n.-38G>T | |
| XR_001755695.1:n.933G>T | ||
| NM_000444.6:c.254G>T MANE Select | NP_000435.3:p.Cys85Phe | |
| NM_001282754.2:c.254G>T | NP_001269683.1:p.Cys85Phe |