Revel Score:
ENST00000354071
0.236
ENST00000357654 (MANE Select)
0.933
ENST00000412061
0.933
ENST00000352993
0.933
ENST00000346315
0.933
ENST00000351666
0.933
ENST00000309486
0.933
ENST00000468300
0.933
ENST00000393691
0.933
ENST00000471181
0.933
ENST00000493795
0.933
ENST00000491747
0.933
ENST00000478531
0.933
ENST00000484087
0.933
ENST00000493919
0.933
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063373C>A , CM000679.2:g.43063373C>A | GRCh38 |
| NC_000017.10:g.41215390C>A , CM000679.1:g.41215390C>A | GRCh37 |
| NC_000017.9:g.38468916C>A | NCBI36 |
| NG_005905.2:g.154611G>T , LRG_292:g.154611G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5150G>T | ENSP00000417241.2:p.Trp1717Leu | |
| ENST00000470026.6:c.5153G>T | ENSP00000419274.2:p.Trp1718Leu | |
| ENST00000473961.6:c.5027G>T | ENSP00000420201.2:p.Trp1676Leu | |
| ENST00000476777.6:c.5147G>T | ENSP00000417554.2:p.Trp1716Leu | |
| ENST00000477152.6:c.5075G>T | ENSP00000419988.2:p.Trp1692Leu | |
| ENST00000478531.6:c.1841G>T | ENSP00000420412.2:p.Trp614Leu | |
| ENST00000489037.2:c.5075G>T | ENSP00000420781.2:p.Trp1692Leu | |
| ENST00000493919.6:c.1703G>T | ENSP00000418819.2:p.Trp568Leu | |
| ENST00000494123.6:c.5153G>T | ENSP00000419103.2:p.Trp1718Leu | |
| ENST00000497488.2:c.4265G>T | ENSP00000418986.2:p.Trp1422Leu | |
| ENST00000618469.2:c.5153G>T | ENSP00000478114.2:p.Trp1718Leu | |
| ENST00000634433.2:c.5030G>T | ENSP00000489431.2:p.Trp1677Leu | |
| ENST00000644379.2:c.5219G>T | ENSP00000496570.2:p.Trp1740Leu | |
| ENST00000644555.2:c.1703G>T | ENSP00000494614.2:p.Trp568Leu | |
| ENST00000652672.2:c.5012G>T | ENSP00000498906.2:p.Trp1671Leu | |
| ENST00000484087.6:c.1715G>T | ENSP00000419481.2:p.Trp572Leu | |
| ENST00000357654.9:c.5153G>T MANE Select | ENSP00000350283.3:p.Trp1718Leu | |
| ENST00000471181.7:c.5216G>T | ENSP00000418960.2:p.Trp1739Leu | |
| ENST00000644379.1:c.1540G>T | ||
| ENST00000352993.7:c.1727G>T | ENSP00000312236.5:p.Trp576Leu | |
| ENST00000357654.7:c.5153G>T | ENSP00000350283.3:p.Trp1718Leu | |
| ENST00000461221.5:c.*4936G>T | ENSP00000418548.1:n.*4936G>T | |
| ENST00000468300.5:c.1841G>T | ENSP00000417148.1:p.Trp614Leu | |
| ENST00000471181.6:c.5216G>T | ENSP00000418960.2:p.Trp1739Leu | |
| ENST00000478531.5:c.1841G>T | ENSP00000420412.1:p.Trp614Leu | |
| ENST00000484087.5:c.1466G>T | ENSP00000419481.1:p.Trp489Leu | |
| ENST00000491747.6:c.1841G>T | ENSP00000420705.2:p.Trp614Leu | |
| ENST00000493795.5:c.5012G>T | ENSP00000418775.1:p.Trp1671Leu | |
| ENST00000493919.5:c.1703G>T | ENSP00000418819.1:p.Trp568Leu | |
| ENST00000586385.5:c.83G>T | ENSP00000465818.1:p.Trp28Leu | |
| ENST00000591534.5:c.626G>T | ENSP00000467329.1:p.Trp209Leu | |
| ENST00000591849.5:c.-98-13183G>T | ENSP00000465347.1:n.-98-13183G>T | |
| NM_007294.3:c.5153G>T , LRG_292t1:c.5153G>T | NP_009225.1:p.Trp1718Leu | |
| NM_007297.3:c.5012G>T | NP_009228.2:p.Trp1671Leu | |
| NM_007298.3:c.1841G>T | NP_009229.2:p.Trp614Leu | |
| NM_007299.3:c.1841G>T | NP_009230.2:p.Trp614Leu | |
| NM_007300.3:c.5216G>T | NP_009231.2:p.Trp1739Leu | |
| NR_027676.1:n.5289G>T | ||
| NM_007294.4:c.5153G>T MANE Select | NP_009225.1:p.Trp1718Leu | |
| NM_007297.4:c.5012G>T | NP_009228.2:p.Trp1671Leu | |
| NM_007299.4:c.1841G>T | NP_009230.2:p.Trp614Leu | |
| NM_007300.4:c.5216G>T | NP_009231.2:p.Trp1739Leu | |
| NR_027676.2:n.5330G>T |