Revel Score:
ENST00000262631 (MANE Select)
0.663
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35039140G>A , CM000681.2:g.35039140G>A | GRCh38 |
| NC_000019.9:g.35530044G>A , CM000681.1:g.35530044G>A | GRCh37 |
| NC_000019.8:g.40221884G>A | NCBI36 |
| NG_013359.1:g.13453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262631.11:c.472G>A MANE Select | ENSP00000262631.3:p.Val158Met | |
| ENST00000596348.2:c.373G>A | ENSP00000492247.1:p.Val125Met | |
| ENST00000602150.2:n.2242G>A | ||
| ENST00000638536.1:c.472G>A | ENSP00000492022.1:p.Val158Met | |
| ENST00000639260.1:n.1285G>A | ||
| ENST00000675741.1:c.499G>A | ENSP00000502395.1:p.Val167Met | |
| ENST00000676410.1:c.*190G>A | ENSP00000502717.1:n.*190G>A | |
| ENST00000262631.9:c.472G>A | ENSP00000262631.3:p.Val158Met | |
| ENST00000595652.5:c.259G>A | ENSP00000468848.1:p.Val87Met | |
| ENST00000596348.1:n.481G>A | ||
| ENST00000602150.1:n.2242G>A | ||
| NM_001037.4:c.472G>A | NP_001028.1:p.Val158Met | |
| XM_005259144.1:c.373G>A | XP_005259201.1:p.Val125Met | |
| NM_001321605.1:c.373G>A | NP_001308534.1:p.Val125Met | |
| NM_001037.5:c.472G>A MANE Select | NP_001028.1:p.Val158Met | |
| NM_001321605.2:c.373G>A | NP_001308534.1:p.Val125Met |