This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003676 (SAS)
Exomes Max Group AF
0.00003859 (SAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23495845C>G , CM000682.2:g.23495845C>G | GRCh38 |
| NC_000020.10:g.23476482C>G , CM000682.1:g.23476482C>G | GRCh37 |
| NC_000020.9:g.23424482C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246012.2:c.360C>G MANE Select | ENSP00000246012.1:p.Ser120Arg | |
| ENST00000246012.1:c.360C>G | ENSP00000246012.1:p.Ser120Arg | |
| ENST00000449810.5:c.360C>G | ENSP00000399144.1:p.Ser120Arg | |
| NM_001281730.1:c.360C>G | NP_001268659.1:p.Ser120Arg | |
| NM_005492.3:c.360C>G | NP_005483.1:p.Ser120Arg | |
| XR_937015.1:n.770C>G | ||
| XR_937016.1:n.837C>G | ||
| XR_937017.1:n.770C>G | ||
| XR_937018.1:n.770C>G | ||
| XR_937019.1:n.611C>G | ||
| XR_001754109.1:n.769C>G | ||
| XR_937015.2:n.769C>G | ||
| XR_937016.2:n.836C>G | ||
| XR_937017.2:n.769C>G | ||
| XR_937018.2:n.769C>G | ||
| XR_937019.2:n.606C>G | ||
| NM_001281730.2:c.360C>G | NP_001268659.1:p.Ser120Arg | |
| NM_005492.4:c.360C>G MANE Select | NP_005483.1:p.Ser120Arg |