Revel Score:
ENST00000355710 (MANE Select)
0.726
ENST00000340058
0.726
ENST00000535749
0.726
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43109146C>G , CM000672.2:g.43109146C>G | GRCh38 |
| NC_000010.10:g.43604594C>G , CM000672.1:g.43604594C>G | GRCh37 |
| NC_000010.9:g.42924600C>G | NCBI36 |
| NG_007489.1:g.37078C>G , LRG_518:g.37078C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.868-2061C>G | ENSP00000480088.2:n.868-2061C>G | |
| ENST00000683007.1:n.753C>G | ||
| ENST00000340058.6:c.1179C>G | ENSP00000344798.4:p.Phe393Leu | |
| ENST00000355710.8:c.1179C>G MANE Select | ENSP00000347942.3:p.Phe393Leu | |
| ENST00000671844.1:c.626-2061C>G | ENSP00000500541.1:n.626-2061C>G | |
| ENST00000672389.1:c.74-2061C>G | ENSP00000500252.1:n.74-2061C>G | |
| ENST00000340058.5:c.1179C>G | ENSP00000344798.4:p.Phe393Leu | |
| ENST00000355710.7:c.1179C>G | ENSP00000347942.3:p.Phe393Leu | |
| ENST00000498820.5:c.74-2953C>G | ENSP00000419080.1:n.74-2953C>G | |
| ENST00000615310.4:c.1179C>G | ENSP00000480088.1:p.Phe393Leu | |
| NM_020630.4:c.1179C>G , LRG_518t2:c.1179C>G | NP_065681.1:p.Phe393Leu | |
| NM_020975.4:c.1179C>G , LRG_518t1:c.1179C>G | NP_066124.1:p.Phe393Leu | |
| XM_011540027.1:c.1179C>G | XP_011538329.1:p.Phe393Leu | |
| NM_001355216.1:c.417C>G | NP_001342145.1:p.Phe139Leu | |
| NM_020630.5:c.1179C>G | NP_065681.1:p.Phe393Leu | |
| NM_020975.5:c.1179C>G | NP_066124.1:p.Phe393Leu | |
| NM_020975.6:c.1179C>G MANE Select | NP_066124.1:p.Phe393Leu | |
| NM_020630.6:c.1179C>G | NP_065681.1:p.Phe393Leu |