Revel Score:
ENST00000294964 (MANE Select)
0.200
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.42048735T>A , CM000664.2:g.42048735T>A | GRCh38 |
| NC_000002.11:g.42275875T>A , CM000664.1:g.42275875T>A | GRCh37 |
| NC_000002.10:g.42129379T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294964.6:c.536T>A MANE Select | ENSP00000294964.5:p.Val179Glu | |
| ENST00000294964.5:c.536T>A | ENSP00000294964.5:p.Val179Glu | |
| ENST00000401498.6:c.394T>A | ENSP00000385220.2:p.Cys132Ser | |
| ENST00000485578.1:n.157T>A | ||
| NM_138370.2:c.536T>A | NP_612379.2:p.Val179Glu | |
| NM_138370.3:c.536T>A MANE Select | NP_612379.2:p.Val179Glu |