Revel Score:
ENST00000550746
0.484
ENST00000319106
0.484
ENST00000485960 (MANE Select)
0.484
ENST00000393309
0.484
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71918506C>G , CM000674.2:g.71918506C>G | GRCh38 |
| NC_000012.11:g.72312286C>G , CM000674.1:g.72312286C>G | GRCh37 |
| NC_000012.10:g.70598553C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485960.7:c.1557C>G MANE Select | ENSP00000420678.2:p.Phe519Leu | |
| ENST00000319106.12:c.1581C>G | ENSP00000318262.6:p.Phe527Leu | |
| ENST00000462788.6:c.*971C>G | ENSP00000418467.2:n.*971C>G | |
| ENST00000485960.6:c.1557C>G | ENSP00000420678.2:p.Phe519Leu | |
| ENST00000546450.1:n.723C>G | ||
| ENST00000550746.5:c.1608C>G | ENSP00000448182.1:p.Phe536Leu | |
| NM_001146213.1:c.1557C>G | NP_001139685.2:p.Phe519Leu | |
| NM_001146214.1:c.1581C>G | NP_001139686.1:p.Phe527Leu | |
| NM_022771.4:c.1608C>G | NP_073608.4:p.Phe536Leu | |
| NR_027449.1:n.1421C>G | ||
| XM_006719564.2:c.1632C>G | XP_006719627.1:p.Phe544Leu | |
| XM_006719565.2:c.1581C>G | XP_006719628.1:p.Phe527Leu | |
| XM_006719566.2:c.1311C>G | XP_006719629.1:p.Phe437Leu | |
| XM_006719567.2:c.870C>G | XP_006719630.1:p.Phe290Leu | |
| XM_011538679.1:c.1311C>G | XP_011536981.1:p.Phe437Leu | |
| XM_011538680.1:c.1311C>G | XP_011536982.1:p.Phe437Leu | |
| XM_011538682.1:c.870C>G | XP_011536984.1:p.Phe290Leu | |
| XM_011538683.1:c.870C>G | XP_011536985.1:p.Phe290Leu | |
| XM_006719565.4:c.1581C>G | XP_006719628.1:p.Phe527Leu | |
| XM_006719566.3:c.1311C>G | XP_006719629.1:p.Phe437Leu | |
| XM_017019825.1:c.1260C>G | XP_016875314.1:p.Phe420Leu | |
| XM_017019827.1:c.1176C>G | XP_016875316.1:p.Phe392Leu | |
| XM_017019828.1:c.1125C>G | XP_016875317.1:p.Phe375Leu | |
| NM_001146213.2:c.1557C>G | NP_001139685.2:p.Phe519Leu | |
| NM_001146214.2:c.1581C>G | NP_001139686.1:p.Phe527Leu | |
| NM_022771.5:c.1608C>G | NP_073608.4:p.Phe536Leu | |
| NR_027449.2:n.1369C>G | ||
| NM_001146213.3:c.1557C>G MANE Select | NP_001139685.2:p.Phe519Leu | |
| NM_001146214.3:c.1260C>G | NP_001139686.2:p.Phe420Leu | |
| NM_001385848.1:c.1551C>G | NP_001372777.1:p.Phe517Leu | |
| NM_001385849.1:c.1524C>G | NP_001372778.1:p.Phe508Leu | |
| NM_001385850.1:c.1497C>G | NP_001372779.1:p.Phe499Leu | |
| NM_001385851.1:c.1491C>G | NP_001372780.1:p.Phe497Leu | |
| NM_001385852.1:c.1482C>G | NP_001372781.1:p.Phe494Leu | |
| NM_001385853.1:c.1440C>G | NP_001372782.1:p.Phe480Leu | |
| NM_001385854.1:c.1383C>G | NP_001372783.1:p.Phe461Leu | |
| NM_022771.6:c.1608C>G | NP_073608.4:p.Phe536Leu | |
| NR_027449.3:n.1369C>G | ||
| NR_169765.1:n.1762C>G | ||
| NR_169766.1:n.1500C>G | ||
| NR_169767.1:n.1711C>G | ||
| NR_169768.1:n.1441C>G | ||
| NR_169769.1:n.1576C>G | ||
| NR_169770.1:n.1649C>G | ||
| NR_169771.1:n.1531C>G | ||
| NR_169772.1:n.1230C>G | ||
| NR_169773.1:n.1580C>G | ||
| NR_169774.1:n.1800C>G | ||
| NR_169775.1:n.1671C>G | ||
| NR_169776.1:n.1464C>G | ||
| NR_169777.1:n.1769C>G | ||
| NR_169778.1:n.1559C>G | ||
| NR_169779.1:n.1816C>G | ||
| NR_169780.1:n.1707C>G | ||
| NR_169781.1:n.1555C>G | ||
| NR_169782.1:n.1651C>G | ||
| NR_169783.1:n.1780C>G | ||
| NR_169784.1:n.1369C>G | ||
| NR_169785.1:n.1655+709C>G | ||
| NR_169786.1:n.1461C>G | ||
| NR_169787.1:n.1496C>G | ||
| NR_169788.1:n.1323C>G | ||
| NR_169789.1:n.1409C>G |