Revel Score:
ENST00000357654 (MANE Select)
0.681
ENST00000412061
0.681
ENST00000354071
0.681
ENST00000352993
0.681
ENST00000346315
0.681
ENST00000351666
0.681
ENST00000309486
0.681
ENST00000393691
0.681
ENST00000471181
0.681
ENST00000493795
0.681
ENST00000491747
0.681
ENST00000468300
0.441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051063C>A , CM000679.2:g.43051063C>A | GRCh38 |
| NC_000017.10:g.41203080C>A , CM000679.1:g.41203080C>A | GRCh37 |
| NC_000017.9:g.38456606C>A | NCBI36 |
| NG_005905.2:g.166921G>T , LRG_292:g.166921G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5329G>T | ENSP00000417241.2:p.Asp1777Tyr | |
| ENST00000470026.6:c.5332G>T | ENSP00000419274.2:p.Asp1778Tyr | |
| ENST00000473961.6:c.5206G>T | ENSP00000420201.2:p.Asp1736Tyr | |
| ENST00000476777.6:c.5326G>T | ENSP00000417554.2:p.Asp1776Tyr | |
| ENST00000477152.6:c.5254G>T | ENSP00000419988.2:p.Asp1752Tyr | |
| ENST00000478531.6:c.2020G>T | ENSP00000420412.2:p.Asp674Tyr | |
| ENST00000489037.2:c.5254G>T | ENSP00000420781.2:p.Asp1752Tyr | |
| ENST00000493919.6:c.1882G>T | ENSP00000418819.2:p.Asp628Tyr | |
| ENST00000494123.6:c.5332G>T | ENSP00000419103.2:p.Asp1778Tyr | |
| ENST00000497488.2:c.4444G>T | ENSP00000418986.2:p.Asp1482Tyr | |
| ENST00000618469.2:c.5332G>T | ENSP00000478114.2:p.Asp1778Tyr | |
| ENST00000634433.2:c.5209G>T | ENSP00000489431.2:p.Asp1737Tyr | |
| ENST00000644379.2:c.5398G>T | ENSP00000496570.2:p.Asp1800Tyr | |
| ENST00000644555.2:c.1882G>T | ENSP00000494614.2:p.Asp628Tyr | |
| ENST00000652672.2:c.5191G>T | ENSP00000498906.2:p.Asp1731Tyr | |
| ENST00000484087.6:c.1894G>T | ENSP00000419481.2:p.Asp632Tyr | |
| ENST00000357654.9:c.5332G>T MANE Select | ENSP00000350283.3:p.Asp1778Tyr | |
| ENST00000471181.7:c.5395G>T | ENSP00000418960.2:p.Asp1799Tyr | |
| ENST00000644379.1:c.1719G>T | ||
| ENST00000352993.7:c.1906G>T | ENSP00000312236.5:p.Asp636Tyr | |
| ENST00000357654.7:c.5332G>T | ENSP00000350283.3:p.Asp1778Tyr | |
| ENST00000461221.5:c.*5115G>T | ENSP00000418548.1:n.*5115G>T | |
| ENST00000468300.5:c.2020G>T | ENSP00000417148.1:p.Gly674Trp | |
| ENST00000471181.6:c.5395G>T | ENSP00000418960.2:p.Asp1799Tyr | |
| ENST00000491747.6:c.2020G>T | ENSP00000420705.2:p.Asp674Tyr | |
| ENST00000493795.5:c.5191G>T | ENSP00000418775.1:p.Asp1731Tyr | |
| ENST00000586385.5:c.262G>T | ENSP00000465818.1:p.Asp88Tyr | |
| ENST00000591534.5:c.805G>T | ENSP00000467329.1:p.Asp269Tyr | |
| ENST00000591849.5:c.-98-873G>T | ENSP00000465347.1:n.-98-873G>T | |
| NM_007294.3:c.5332G>T , LRG_292t1:c.5332G>T | NP_009225.1:p.Asp1778Tyr | |
| NM_007297.3:c.5191G>T | NP_009228.2:p.Asp1731Tyr | |
| NM_007298.3:c.2020G>T | NP_009229.2:p.Asp674Tyr | |
| NM_007299.3:c.2020G>T | NP_009230.2:p.Gly674Trp | |
| NM_007300.3:c.5395G>T | NP_009231.2:p.Asp1799Tyr | |
| NR_027676.1:n.5468G>T | ||
| NM_007294.4:c.5332G>T MANE Select | NP_009225.1:p.Asp1778Tyr | |
| NM_007297.4:c.5191G>T | NP_009228.2:p.Asp1731Tyr | |
| NM_007299.4:c.2020G>T | NP_009230.2:p.Gly674Trp | |
| NM_007300.4:c.5395G>T | NP_009231.2:p.Asp1799Tyr | |
| NR_027676.2:n.5509G>T |