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 v3:
gnomAD v4:
Joint Max Group AF
0.0001709 (EAS)
Genomes Max Group AF
0.00037972 (EAS)
Exomes Max Group AF
0.00009928 (EAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19516269C>A , CM000681.2:g.19516269C>A | GRCh38 |
| NC_000019.9:g.19627078C>A , CM000681.1:g.19627078C>A | GRCh37 |
| NC_000019.8:g.19488078C>A | NCBI36 |
| NG_013380.1:g.5060C>A | |
| NG_033078.1:g.4392G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507754.9:c.31C>A MANE Select | ENSP00000423673.1:p.Pro11Thr | |
| ENST00000428459.6:c.31C>A | ENSP00000465129.1:p.Pro11Thr | |
| ENST00000502506.6:c.31C>A | ENSP00000467274.2:p.Pro11Thr | |
| ENST00000503283.5:c.31C>A | ENSP00000468317.1:p.Pro11Thr | |
| ENST00000507754.8:c.31C>A | ENSP00000423673.1:p.Pro11Thr | |
| ENST00000511180.4:n.29C>A | ||
| ENST00000511584.2:n.40C>A | ||
| ENST00000555938.1:c.31C>A | ENSP00000452549.1:p.Pro11Thr | |
| ENST00000586674.1:n.41C>A | ||
| ENST00000606722.1:c.9C>A | ||
| NM_015965.6:c.31C>A | NP_057049.5:p.Pro11Thr | |
| NM_015965.7:c.31C>A MANE Select | NP_057049.5:p.Pro11Thr |