Revel Score:
ENST00000396865 (MANE Select)
0.158
ENST00000318672
0.158
ENST00000539768
0.158
ENST00000515629
0.158
ENST00000512595
0.158
ENST00000511233
0.158
ENST00000512208
0.158
ENST00000503817
0.158
ENST00000503891
0.158
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55669766T>A , CM000667.2:g.55669766T>A | GRCh38 |
| NC_000005.9:g.54965594T>A , CM000667.1:g.54965594T>A | GRCh37 |
| NC_000005.8:g.55001351T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396865.7:c.360A>T MANE Select | ENSP00000380074.2:p.Leu120Phe | |
| ENST00000318672.7:c.360A>T | ENSP00000316596.3:p.Leu120Phe | |
| ENST00000396865.6:c.360A>T | ENSP00000380074.2:p.Leu120Phe | |
| ENST00000416547.6:c.-13A>T | ENSP00000397429.2:n.-13A>T | |
| ENST00000503817.5:c.171A>T | ENSP00000424918.1:p.Leu57Phe | |
| ENST00000503891.5:c.360A>T | ENSP00000425055.1:p.Leu120Phe | |
| ENST00000505708.5:c.171A>T | ENSP00000427707.1:p.Leu57Phe | |
| ENST00000508124.5:c.*95A>T | ENSP00000426925.1:n.*95A>T | |
| ENST00000511233.5:c.360A>T | ENSP00000423219.1:p.Leu120Phe | |
| ENST00000512208.5:c.171A>T | ENSP00000426413.1:p.Leu57Phe | |
| ENST00000512595.5:c.279A>T | ENSP00000427335.1:p.Leu93Phe | |
| ENST00000514806.5:n.487A>T | ||
| ENST00000515629.5:c.171A>T | ENSP00000420934.1:p.Leu57Phe | |
| NM_001258286.1:c.171A>T | NP_001245215.1:p.Leu57Phe | |
| NM_001258287.1:c.279A>T | NP_001245216.1:p.Leu93Phe | |
| NM_001282429.1:c.-13A>T | NP_001269358.1:n.-13A>T | |
| NM_173514.3:c.360A>T | NP_775785.2:p.Leu120Phe | |
| NR_047649.1:n.711A>T | ||
| XM_006714537.2:c.360A>T | XP_006714600.1:p.Leu120Phe | |
| XM_006714538.2:c.360A>T | XP_006714601.1:p.Leu120Phe | |
| XM_006714539.2:c.360A>T | XP_006714602.1:p.Leu120Phe | |
| XM_011543173.1:c.360A>T | XP_011541475.1:p.Leu120Phe | |
| XM_011543174.1:c.360A>T | XP_011541476.1:p.Leu120Phe | |
| XM_011543175.1:c.360A>T | XP_011541477.1:p.Leu120Phe | |
| XM_011543176.1:c.360A>T | XP_011541478.1:p.Leu120Phe | |
| XM_011543177.1:c.360A>T | XP_011541479.1:p.Leu120Phe | |
| XM_011543178.1:c.360A>T | XP_011541480.1:p.Leu120Phe | |
| XM_011543179.1:c.360A>T | XP_011541481.1:p.Leu120Phe | |
| XM_011543180.1:c.360A>T | XP_011541482.1:p.Leu120Phe | |
| XM_011543181.1:c.360A>T | XP_011541483.1:p.Leu120Phe | |
| XM_011543182.1:c.360A>T | XP_011541484.1:p.Leu120Phe | |
| XM_011543183.1:c.360A>T | XP_011541485.1:p.Leu120Phe | |
| XM_011543184.1:c.360A>T | XP_011541486.1:p.Leu120Phe | |
| XR_948237.1:n.795A>T | ||
| XR_948238.1:n.795A>T | ||
| NM_001349382.1:c.360A>T | NP_001336311.1:p.Leu120Phe | |
| NM_001349383.1:c.360A>T | NP_001336312.1:p.Leu120Phe | |
| NM_001349384.1:c.360A>T | NP_001336313.1:p.Leu120Phe | |
| NM_001349385.1:c.360A>T | NP_001336314.1:p.Leu120Phe | |
| NR_146165.1:n.561A>T | ||
| XM_006714539.3:c.360A>T | XP_006714602.1:p.Leu120Phe | |
| XM_017009077.1:c.360A>T | XP_016864566.1:p.Leu120Phe | |
| XM_017009078.2:c.360A>T | XP_016864567.1:p.Leu120Phe | |
| XM_017009080.1:c.360A>T | XP_016864569.1:p.Leu120Phe | |
| XM_017009081.1:c.360A>T | XP_016864570.1:p.Leu120Phe | |
| XM_017009082.1:c.360A>T | XP_016864571.1:p.Leu120Phe | |
| XM_024454369.1:c.360A>T | XP_024310137.1:p.Leu120Phe | |
| XR_001742002.1:n.795A>T | ||
| XR_948237.2:n.795A>T | ||
| NM_173514.4:c.360A>T MANE Select | NP_775785.2:p.Leu120Phe |