Revel Score:
ENST00000348624
0.680
ENST00000401897
0.680
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033493 (AFR)
Genomes Max Group AF
0.00050745 (EAS)
Exomes Max Group AF
0.00042576 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.4788266C>T , CM000669.2:g.4788266C>T | GRCh38 |
| NC_000007.13:g.4827897C>T , CM000669.1:g.4827897C>T | GRCh37 |
| NC_000007.12:g.4794423C>T | NCBI36 |
| NG_028111.1:g.17636C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477680.6:n.1325C>T | ||
| ENST00000496303.6:n.1395C>T | ||
| ENST00000647984.1:c.*912C>T | ENSP00000497794.1:n.*912C>T | |
| ENST00000648360.1:c.177C>T | ||
| ENST00000648925.1:c.1567C>T | ENSP00000496830.1:p.Arg523Cys | |
| ENST00000649063.2:c.1567C>T MANE Select | ENSP00000497815.1:p.Arg523Cys | |
| ENST00000649315.1:c.1064C>T | ||
| ENST00000649419.1:n.1446C>T | ||
| ENST00000649736.1:n.430C>T | ||
| ENST00000650310.1:c.*138C>T | ENSP00000497395.1:n.*138C>T | |
| ENST00000650581.1:c.369C>T | ||
| ENST00000348624.4:c.1567C>T | ENSP00000297562.4:p.Arg523Cys | |
| ENST00000469614.1:n.41C>T | ||
| ENST00000477454.1:n.348C>T | ||
| ENST00000477680.5:n.1325C>T | ||
| ENST00000496303.5:n.1631C>T | ||
| NM_014855.2:c.1567C>T | NP_055670.1:p.Arg523Cys | |
| XR_242109.1:n.1630C>T | ||
| NM_001364858.1:c.1099C>T | NP_001351787.1:p.Arg367Cys | |
| NM_014855.3:c.1567C>T MANE Select | NP_055670.1:p.Arg523Cys | |
| NR_157345.1:n.1698C>T |