Revel Score:
ENST00000374479 (MANE Select)
0.837
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23865551G>A , CM000663.2:g.23865551G>A | GRCh38 |
| NC_000001.10:g.24192041G>A , CM000663.1:g.24192041G>A | GRCh37 |
| NC_000001.9:g.24064628G>A | NCBI36 |
| NG_013346.1:g.7819C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.464C>T MANE Select | ENSP00000363603.3:p.Ser155Phe | |
| ENST00000374479.3:c.464C>T | ENSP00000363603.3:p.Ser155Phe | |
| NM_000147.4:c.464C>T | NP_000138.2:p.Ser155Phe | |
| XM_005245821.1:c.89C>T | XP_005245878.1:p.Ser30Phe | |
| XM_011541167.1:c.-170C>T | XP_011539469.1:n.-170C>T | |
| XM_005245821.3:c.89C>T | XP_005245878.1:p.Ser30Phe | |
| XM_011541167.3:c.-170C>T | XP_011539469.1:n.-170C>T | |
| XM_017000905.2:c.161C>T | XP_016856394.1:p.Ser54Phe | |
| NM_000147.5:c.464C>T MANE Select | NP_000138.2:p.Ser155Phe | |
| NR_174379.1:n.642C>T | ||
| NR_174380.1:n.691C>T | ||
| NR_174381.1:n.530C>T | ||
| NR_174382.1:n.927C>T |