Revel Score:
ENST00000426263 (MANE Select)
0.909
ENST00000372501
0.909
ENST00000397019
0.909
ENST00000415851
0.909
ENST00000372500
0.909
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42931124G>A , CM000663.2:g.42931124G>A | GRCh38 |
| NC_000001.10:g.43396795G>A , CM000663.1:g.43396795G>A | GRCh37 |
| NC_000001.9:g.43169382G>A | NCBI36 |
| NG_008232.1:g.33053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.197C>T MANE Select | ENSP00000416293.2:p.Ser66Phe | |
| ENST00000674765.1:c.197C>T | ENSP00000501811.1:p.Ser66Phe | |
| ENST00000675112.1:n.220C>T | ||
| ENST00000676254.1:n.646C>T | ||
| ENST00000372500.4:c.101C>T | ENSP00000361578.4:p.Ser34Phe | |
| ENST00000415851.6:n.414C>T | ||
| ENST00000426263.7:c.197C>T | ENSP00000416293.2:p.Ser66Phe | |
| ENST00000439722.2:c.2C>T | ENSP00000395521.2:p.Ser1Phe | |
| ENST00000475162.3:c.96C>T | ||
| ENST00000625233.2:n.405C>T | ||
| ENST00000630287.2:c.197C>T | ENSP00000486694.1:p.Ser66Phe | |
| NM_006516.2:c.197C>T | NP_006507.2:p.Ser66Phe | |
| NM_006516.3:c.197C>T | NP_006507.2:p.Ser66Phe | |
| NM_006516.4:c.197C>T MANE Select | NP_006507.2:p.Ser66Phe |