Revel Score:
ENST00000246337 (MANE Select)
0.608
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45014996A>T , CM000663.2:g.45014996A>T | GRCh38 |
| NC_000001.10:g.45480668A>T , CM000663.1:g.45480668A>T | GRCh37 |
| NC_000001.9:g.45253255A>T | NCBI36 |
| NG_007122.2:g.7839A>T | |
| NG_033058.1:g.1360T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246337.9:c.932A>T MANE Select | ENSP00000246337.4:p.Tyr311Phe | |
| ENST00000491773.6:c.689A>T | ENSP00000498551.1:p.Tyr230Phe | |
| ENST00000636293.1:c.794A>T | ENSP00000490710.1:p.Tyr265Phe | |
| ENST00000636836.1:c.875+160A>T | ENSP00000490594.1:n.875+160A>T | |
| ENST00000651476.1:c.827A>T | ENSP00000498668.1:p.Tyr276Phe | |
| ENST00000652165.1:c.689A>T | ENSP00000498295.1:p.Tyr230Phe | |
| ENST00000652287.1:c.869A>T | ENSP00000498413.1:p.Tyr290Phe | |
| ENST00000652514.1:c.893A>T | ENSP00000498635.1:n.893A>T | |
| ENST00000246337.8:c.932A>T | ENSP00000246337.4:p.Tyr311Phe | |
| ENST00000465678.1:n.347A>T | ||
| ENST00000466193.1:n.458A>T | ||
| ENST00000472254.1:n.685A>T | ||
| ENST00000494399.5:n.1599A>T | ||
| NM_000374.4:c.932A>T | NP_000365.3:p.Tyr311Phe | |
| NR_036510.1:n.1115A>T | ||
| XM_005271169.1:c.716A>T | XP_005271226.1:p.Tyr239Phe | |
| XM_005271170.1:c.716A>T | XP_005271227.1:p.Tyr239Phe | |
| XM_011542080.1:c.869A>T | XP_011540382.1:p.Tyr290Phe | |
| XM_011542081.1:c.764A>T | XP_011540383.1:p.Tyr255Phe | |
| NM_000374.5:c.932A>T MANE Select | NP_000365.3:p.Tyr311Phe | |
| NR_158184.1:n.1013A>T | ||
| NR_158185.1:n.963A>T | ||
| NR_036510.2:n.994A>T |