Revel Score:
ENST00000351677 (MANE Select)
0.887
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489092C>G , CM000674.2:g.112489092C>G | GRCh38 |
| NC_000012.11:g.112926896C>G , CM000674.1:g.112926896C>G | GRCh37 |
| NC_000012.10:g.111411279C>G | NCBI36 |
| NG_007459.1:g.75361C>G , LRG_614:g.75361C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1516C>G | ENSP00000491593.2:p.Gln506Glu | |
| ENST00000685487.1:c.1516C>G | ENSP00000508503.1:p.Gln506Glu | |
| ENST00000687624.1:n.181C>G | ||
| ENST00000687906.1:c.1402C>G | ENSP00000509536.1:p.Gln468Glu | |
| ENST00000688597.1:c.1224+6887C>G | ENSP00000510628.1:n.1224+6887C>G | |
| ENST00000688701.1:n.760C>G | ||
| ENST00000690210.1:c.1516C>G | ENSP00000509272.1:p.Gln506Glu | |
| ENST00000690472.1:n.725C>G | ||
| ENST00000692624.1:c.*62C>G | ENSP00000508953.1:n.*62C>G | |
| ENST00000351677.7:c.1516C>G MANE Select | ENSP00000340944.3:p.Gln506Glu | |
| ENST00000351677.6:c.1516C>G | ENSP00000340944.2:p.Gln506Glu | |
| ENST00000635625.1:c.1528C>G | ENSP00000489597.1:p.Gln510Glu | |
| ENST00000635652.1:c.529C>G | ENSP00000489541.1:p.Gln177Glu | |
| NM_002834.3:c.1516C>G , LRG_614t1:c.1516C>G | NP_002825.3:p.Gln506Glu | |
| XM_006719526.1:c.1528C>G | XP_006719589.1:p.Gln510Glu | |
| XM_006719527.1:c.1414C>G | XP_006719590.1:p.Gln472Glu | |
| XM_011538613.1:c.1525C>G | XP_011536915.1:p.Gln509Glu | |
| NM_001330437.1:c.1528C>G | NP_001317366.1:p.Gln510Glu | |
| NM_002834.4:c.1516C>G | NP_002825.3:p.Gln506Glu | |
| XM_011538613.2:c.1525C>G | XP_011536915.1:p.Gln509Glu | |
| XM_017019722.1:c.1513C>G | XP_016875211.1:p.Gln505Glu | |
| NM_001330437.2:c.1528C>G | NP_001317366.1:p.Gln510Glu | |
| NM_001374625.1:c.1513C>G | NP_001361554.1:p.Gln505Glu | |
| NM_002834.5:c.1516C>G MANE Select | NP_002825.3:p.Gln506Glu |