Revel Score:
ENST00000307767 (MANE Select)
0.297
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18790926C>G , CM000679.2:g.18790926C>G | GRCh38 |
| NC_000017.10:g.18694239C>G , CM000679.1:g.18694239C>G | GRCh37 |
| NC_000017.9:g.18634964C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307767.13:c.126C>G MANE Select | ENSP00000305654.8:p.Phe42Leu | |
| ENST00000307767.12:c.126C>G | ENSP00000305654.8:p.Phe42Leu | |
| ENST00000476139.5:c.-67C>G | ENSP00000463400.2:n.-67C>G | |
| ENST00000571018.5:c.95+1491C>G | ENSP00000460797.1:n.95+1491C>G | |
| ENST00000572845.1:n.73+1491C>G | ||
| ENST00000574226.5:c.126C>G | ENSP00000462334.1:p.Phe42Leu | |
| ENST00000574294.5:c.126C>G | ENSP00000460239.1:p.Phe42Leu | |
| ENST00000575261.5:c.-67C>G | ENSP00000467001.1:n.-67C>G | |
| ENST00000581733.1:c.-67C>G | ENSP00000465872.1:n.-67C>G | |
| NM_001316919.1:c.-67C>G | NP_001303848.1:n.-67C>G | |
| NM_001316920.1:c.-67C>G | NP_001303849.1:n.-67C>G | |
| NM_001316921.1:c.-67C>G | NP_001303850.1:n.-67C>G | |
| NM_001316922.1:c.-53C>G | NP_001303851.1:n.-53C>G | |
| NM_001316923.1:c.-19+1491C>G | NP_001303852.1:n.-19+1491C>G | |
| NM_001316924.1:c.126C>G | NP_001303853.1:p.Phe42Leu | |
| NM_016078.4:c.126C>G | NP_057162.4:p.Phe42Leu | |
| NM_016078.5:c.126C>G | NP_057162.4:p.Phe42Leu | |
| XM_005256673.3:c.126C>G | XP_005256730.1:p.Phe42Leu | |
| NM_016078.6:c.126C>G MANE Select | NP_057162.4:p.Phe42Leu | |
| NM_001316924.2:c.126C>G | NP_001303853.1:p.Phe42Leu | |
| NM_001316921.2:c.-67C>G | NP_001303850.1:n.-67C>G | |
| NM_001316922.2:c.-53C>G | NP_001303851.1:n.-53C>G | |
| NM_001316923.2:c.-19+1491C>G | NP_001303852.1:n.-19+1491C>G |