Revel Score:
ENST00000393504
0.925
ENST00000436404
0.925
ENST00000272602 (MANE Select)
0.925
ENST00000409937
0.925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98396811C>G , CM000664.2:g.98396811C>G | GRCh38 |
| NC_000002.11:g.99013274C>G , CM000664.1:g.99013274C>G | GRCh37 |
| NC_000002.10:g.98379706C>G | NCBI36 |
| NG_009097.1:g.55657C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272602.7:c.1641C>G MANE Select | ENSP00000272602.2:p.Phe547Leu | |
| ENST00000272602.6:c.1641C>G | ENSP00000272602.2:p.Phe547Leu | |
| ENST00000393504.5:c.1641C>G | ENSP00000377140.1:p.Phe547Leu | |
| ENST00000409937.1:c.1653C>G | ENSP00000386761.1:p.Phe551Leu | |
| ENST00000436404.6:c.1587C>G | ENSP00000410070.2:p.Phe529Leu | |
| NM_001079878.1:c.1587C>G | NP_001073347.1:p.Phe529Leu | |
| NM_001298.2:c.1641C>G | NP_001289.1:p.Phe547Leu | |
| XM_006712243.2:c.1752C>G | XP_006712306.1:p.Phe584Leu | |
| XM_011510554.1:c.1806C>G | XP_011508856.1:p.Phe602Leu | |
| XM_011510554.2:c.1806C>G | XP_011508856.1:p.Phe602Leu | |
| NM_001079878.2:c.1587C>G | NP_001073347.1:p.Phe529Leu | |
| NM_001298.3:c.1641C>G MANE Select | NP_001289.1:p.Phe547Leu |