Revel Score:
ENST00000338625 (MANE Select)
0.787
ENST00000379523
0.787
ENST00000443985
0.787
ENST00000417731
0.787
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40793270C>A , CM000675.2:g.40793270C>A | GRCh38 |
| NC_000013.10:g.41367406C>A , CM000675.1:g.41367406C>A | GRCh37 |
| NC_000013.9:g.40265406C>A | NCBI36 |
| NG_012248.1:g.8860C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707033.1:c.44C>A | ENSP00000516711.1:p.Ala15Glu | |
| ENST00000338625.9:c.44C>A MANE Select | ENSP00000342267.4:p.Ala15Glu | |
| ENST00000338625.8:c.44C>A | ENSP00000342267.4:p.Ala15Glu | |
| ENST00000417731.5:c.44C>A | ENSP00000415826.1:p.Ala15Glu | |
| ENST00000470509.1:c.44C>A | ENSP00000431429.1:p.Ala15Glu | |
| ENST00000478827.1:n.365C>A | ||
| NM_014252.3:c.44C>A | NP_055067.1:p.Ala15Glu | |
| NM_014252.4:c.44C>A MANE Select | NP_055067.1:p.Ala15Glu |