Revel Score:
ENST00000439351
0.541
ENST00000265028 (MANE Select)
0.541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186572103T>G , CM000665.2:g.186572103T>G | GRCh38 |
| NC_000003.11:g.186289892T>G , CM000665.1:g.186289892T>G | GRCh37 |
| NC_000003.10:g.187772586T>G | NCBI36 |
| NG_034024.1:g.6428T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265028.8:c.77T>G MANE Select | ENSP00000265028.3:p.Phe26Cys | |
| ENST00000464877.2:n.275T>G | ||
| ENST00000495390.2:n.275T>G | ||
| ENST00000680338.1:c.77T>G | ENSP00000505624.1:p.Phe26Cys | |
| ENST00000265028.7:c.77T>G | ENSP00000265028.3:p.Phe26Cys | |
| ENST00000439351.5:c.77T>G | ENSP00000414398.1:p.Phe26Cys | |
| NM_016306.5:c.77T>G | NP_057390.1:p.Phe26Cys | |
| NM_001378451.1:c.77T>G | NP_001365380.1:p.Phe26Cys | |
| NM_016306.6:c.77T>G MANE Select | NP_057390.1:p.Phe26Cys | |
| NR_165638.1:n.255T>G | ||
| NR_165639.1:n.255T>G | ||
| NR_165640.1:n.255T>G | ||
| NR_165641.1:n.255T>G | ||
| NR_165642.1:n.255T>G | ||
| NR_165643.1:n.255T>G |