Revel Score:
ENST00000319023 (MANE Select)
0.380
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.0000178 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71458501G>A , CM000673.2:g.71458501G>A | GRCh38 |
| NC_000011.9:g.71169547G>A , CM000673.1:g.71169547G>A | GRCh37 |
| NC_000011.8:g.70847195G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319023.7:c.220G>A MANE Select | ENSP00000326424.2:p.Val74Met | |
| ENST00000319023.6:c.220G>A | ENSP00000326424.2:p.Val74Met | |
| ENST00000524949.5:n.286G>A | ||
| ENST00000525200.5:c.120G>A | ||
| ENST00000525245.1:n.161G>A | ||
| ENST00000527538.5:n.276G>A | ||
| ENST00000528509.5:c.220G>A | ENSP00000433472.1:p.Val74Met | |
| ENST00000529120.5:c.220G>A | ENSP00000437220.1:p.Val74Met | |
| ENST00000533769.5:n.286G>A | ||
| ENST00000534634.5:n.408G>A | ||
| NM_018161.4:c.220G>A | NP_060631.2:p.Val74Met | |
| NM_018161.5:c.220G>A MANE Select | NP_060631.2:p.Val74Met |