Revel Score:
ENST00000426263 (MANE Select)
0.763
ENST00000397019
0.763
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927154T>C , CM000663.2:g.42927154T>C | GRCh38 |
| NC_000001.10:g.43392825T>C , CM000663.1:g.43392825T>C | GRCh37 |
| NC_000001.9:g.43165412T>C | NCBI36 |
| NG_008232.1:g.37023A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1366A>G MANE Select | ENSP00000416293.2:p.Lys456Glu | |
| ENST00000674545.1:n.1983A>G | ||
| ENST00000674765.1:c.1030-297A>G | ENSP00000501811.1:n.1030-297A>G | |
| ENST00000675112.1:n.1667A>G | ||
| ENST00000676254.1:n.1815A>G | ||
| ENST00000426263.7:c.1366A>G | ENSP00000416293.2:p.Lys456Glu | |
| ENST00000475162.3:c.416-176A>G | ||
| ENST00000630287.2:c.*681A>G | ENSP00000486694.1:n.*681A>G | |
| NM_006516.2:c.1366A>G | NP_006507.2:p.Lys456Glu | |
| NM_006516.3:c.1366A>G | NP_006507.2:p.Lys456Glu | |
| NM_006516.4:c.1366A>G MANE Select | NP_006507.2:p.Lys456Glu |