Revel Score:
ENST00000263321 (MANE Select)
0.749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89191364G>A , CM000673.2:g.89191364G>A | GRCh38 |
| NC_000011.9:g.88924532G>A , CM000673.1:g.88924532G>A | GRCh37 |
| NC_000011.8:g.88564180G>A | NCBI36 |
| NG_008748.1:g.18493G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.982G>A MANE Select | ENSP00000263321.4:p.Glu328Lys | |
| ENST00000263321.5:c.982G>A | ENSP00000263321.4:p.Glu328Lys | |
| ENST00000526139.1:n.1043G>A | ||
| NM_000372.4:c.982G>A | NP_000363.1:p.Glu328Lys | |
| XM_011542970.1:c.982G>A | XP_011541272.1:p.Glu328Lys | |
| XM_011542970.2:c.982G>A | XP_011541272.1:p.Glu328Lys | |
| XR_001748321.1:n.2718-77831C>T | ||
| XR_001748322.1:n.2733-77831C>T | ||
| NM_000372.5:c.982G>A MANE Select | NP_000363.1:p.Glu328Lys |