Revel Score:
ENST00000295890
0.614
ENST00000507544 (MANE Select)
0.614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73069336T>G , CM000666.2:g.73069336T>G | GRCh38 |
| NC_000004.11:g.73935053T>G , CM000666.1:g.73935053T>G | GRCh37 |
| NC_000004.10:g.74153917T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507544.3:c.314A>C MANE Select | ENSP00000425261.3:p.Gln105Pro | |
| ENST00000295890.8:c.314A>C | ENSP00000295890.4:p.Gln105Pro | |
| ENST00000421792.2:n.420A>C | ||
| ENST00000449739.6:c.314A>C | ENSP00000394583.2:p.Gln105Pro | |
| ENST00000507544.2:c.314A>C | ENSP00000425261.2:p.Gln105Pro | |
| ENST00000510031.1:c.314A>C | ENSP00000424978.1:p.Gln105Pro | |
| NM_001297732.1:c.314A>C | NP_001284661.1:p.Gln105Pro | |
| NM_001297733.1:c.-144A>C | NP_001284662.1:n.-144A>C | |
| NM_001300729.1:c.424A>C | NP_001287658.1:p.Ser142Arg | |
| NM_173827.3:c.314A>C | NP_776188.1:p.Gln105Pro | |
| XM_005265680.3:c.314A>C | XP_005265737.1:p.Gln105Pro | |
| XM_011531878.1:c.-144A>C | XP_011530180.1:n.-144A>C | |
| XM_005265680.5:c.314A>C | XP_005265737.1:p.Gln105Pro | |
| XM_011531878.3:c.-144A>C | XP_011530180.1:n.-144A>C | |
| XM_017008045.2:c.314A>C | XP_016863534.1:p.Gln105Pro | |
| XR_001741209.2:n.424A>C | ||
| XR_002959725.1:n.442A>C | ||
| NM_001297732.2:c.314A>C MANE Select | NP_001284661.1:p.Gln105Pro | |
| NM_001297733.2:c.-144A>C | NP_001284662.1:n.-144A>C | |
| NM_173827.4:c.314A>C | NP_776188.1:p.Gln105Pro |