Revel Score:
ENST00000376959
0.696
ENST00000477616 (MANE Select)
0.696
ENST00000443843
0.696
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50323609G>C , CM000681.2:g.50323609G>C | GRCh38 |
| NC_000019.9:g.50826866G>C , CM000681.1:g.50826866G>C | GRCh37 |
| NC_000019.8:g.55518678G>C | NCBI36 |
| NG_008134.2:g.10769C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477616.2:c.1344C>G MANE Select | ENSP00000434241.1:p.Phe448Leu | |
| ENST00000670667.1:c.1344C>G | ENSP00000499301.1:p.Phe448Leu | |
| ENST00000376959.6:c.1344C>G | ENSP00000366158.2:p.Phe448Leu | |
| ENST00000474951.1:c.-74-2825C>G | ENSP00000432438.1:n.-74-2825C>G | |
| ENST00000477616.1:c.1344C>G | ENSP00000434241.1:p.Phe448Leu | |
| NM_004977.2:c.1344C>G | NP_004968.2:p.Phe448Leu | |
| NR_110912.1:n.48-2825C>G | ||
| XM_006723203.2:c.1344C>G | XP_006723266.1:p.Phe448Leu | |
| XM_011526925.1:c.1344C>G | XP_011525227.1:p.Phe448Leu | |
| XM_011526926.1:c.1344C>G | XP_011525228.1:p.Phe448Leu | |
| XM_011526927.1:c.1344C>G | XP_011525229.1:p.Phe448Leu | |
| XM_011526928.1:c.1344C>G | XP_011525230.1:p.Phe448Leu | |
| NM_001372305.1:c.1116C>G | NP_001359234.1:p.Phe372Leu | |
| NM_004977.3:c.1344C>G MANE Select | NP_004968.2:p.Phe448Leu | |
| NR_110912.2:n.69-2825C>G |