Revel Score:
ENST00000398015 (MANE Select)
0.236
ENST00000474732
0.236
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.134951682C>A , CM000665.2:g.134951682C>A | GRCh38 |
| NC_000003.11:g.134670524C>A , CM000665.1:g.134670524C>A | GRCh37 |
| NC_000003.10:g.136153214C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398015.8:c.435C>A MANE Select | ENSP00000381097.3:p.Ser145Arg | |
| ENST00000647596.1:c.435C>A | ENSP00000497153.1:p.Ser145Arg | |
| ENST00000398015.7:c.435C>A | ENSP00000381097.3:p.Ser145Arg | |
| ENST00000474732.1:c.369C>A | ENSP00000418352.1:p.Ser123Arg | |
| ENST00000482618.5:c.435C>A | ENSP00000420338.1:p.Ser145Arg | |
| ENST00000488154.5:n.435C>A | ||
| NM_004441.4:c.435C>A | NP_004432.1:p.Ser145Arg | |
| XM_011512540.1:c.417C>A | XP_011510842.1:p.Ser139Arg | |
| XM_011512541.1:c.369C>A | XP_011510843.1:p.Ser123Arg | |
| XM_017005866.2:c.435C>A | XP_016861355.1:p.Ser145Arg | |
| XM_017005867.1:c.417C>A | XP_016861356.1:p.Ser139Arg | |
| XM_024453389.1:c.369C>A | XP_024309157.1:p.Ser123Arg | |
| XM_024453390.1:c.369C>A | XP_024309158.1:p.Ser123Arg | |
| NM_004441.5:c.435C>A MANE Select | NP_004432.1:p.Ser145Arg |