Revel Score:
ENST00000343916
0.325
ENST00000452372
0.325
ENST00000537652
0.325
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15695507 (AFR)
Genomes Max Group AF
0.15326615 (AFR)
Exomes Max Group AF
0.1593307 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62819953C>T , CM000682.2:g.62819953C>T | GRCh38 |
| NC_000020.10:g.61451305C>T , CM000682.1:g.61451305C>T | GRCh37 |
| NC_000020.9:g.60921750C>T | NCBI36 |
| NG_016353.1:g.7892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452372.2:c.169C>T | ENSP00000394280.1:p.Pro57Ser | |
| ENST00000649368.1:c.280C>T MANE Select | ENSP00000496793.1:p.Pro94Ser | |
| ENST00000343916.7:c.280C>T | ENSP00000341640.3:p.Pro94Ser | |
| ENST00000452372.1:c.169C>T | ENSP00000394280.1:p.Pro57Ser | |
| ENST00000477612.5:n.276C>T | ||
| ENST00000489045.5:n.326C>T | ||
| NM_001853.3:c.280C>T | NP_001844.3:p.Pro94Ser | |
| XM_011528543.1:c.280C>T | XP_011526845.1:p.Pro94Ser | |
| XM_011528544.1:c.9C>T | XP_011526846.1:p.Pro3= | |
| XM_011528545.1:c.280C>T | XP_011526847.1:p.Pro94Ser | |
| XM_011528546.1:c.280C>T | XP_011526848.1:p.Pro94Ser | |
| XM_011528547.1:c.280C>T | XP_011526849.1:p.Pro94Ser | |
| XR_936499.1:n.281C>T | ||
| NM_001853.4:c.280C>T MANE Select | NP_001844.3:p.Pro94Ser | |
| XM_017027666.1:c.280C>T | XP_016883155.1:p.Pro94Ser |