Revel Score:
ENST00000426263 (MANE Select)
0.475
ENST00000372501
0.475
ENST00000397019
0.475
ENST00000439722
0.475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929719C>G , CM000663.2:g.42929719C>G | GRCh38 |
| NC_000001.10:g.43395390C>G , CM000663.1:g.43395390C>G | GRCh37 |
| NC_000001.9:g.43167977C>G | NCBI36 |
| NG_008232.1:g.34458G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.741G>C MANE Select | ENSP00000416293.2:p.Glu247Asp | |
| ENST00000669445.1:c.71G>C | ||
| ENST00000674765.1:c.741G>C | ENSP00000501811.1:p.Glu247Asp | |
| ENST00000675112.1:n.764G>C | ||
| ENST00000676254.1:n.1190G>C | ||
| ENST00000426263.7:c.741G>C | ENSP00000416293.2:p.Glu247Asp | |
| ENST00000439722.2:c.620G>C | ENSP00000395521.2:n.620G>C | |
| ENST00000475162.3:c.415+907G>C | ||
| ENST00000630287.2:c.*56G>C | ENSP00000486694.1:n.*56G>C | |
| NM_006516.2:c.741G>C | NP_006507.2:p.Glu247Asp | |
| NM_006516.3:c.741G>C | NP_006507.2:p.Glu247Asp | |
| NM_006516.4:c.741G>C MANE Select | NP_006507.2:p.Glu247Asp |