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
0.00001089 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19527708C>G , CM000681.2:g.19527708C>G | GRCh38 |
| NC_000019.9:g.19638517C>G , CM000681.1:g.19638517C>G | GRCh37 |
| NC_000019.8:g.19499517C>G | NCBI36 |
| NG_013380.1:g.16499C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507754.9:c.253C>G MANE Select | ENSP00000423673.1:p.Gln85Glu | |
| ENST00000428459.6:c.253C>G | ENSP00000465129.1:p.Gln85Glu | |
| ENST00000502506.6:c.*86C>G | ENSP00000467274.2:n.*86C>G | |
| ENST00000503283.5:c.253C>G | ENSP00000468317.1:p.Gln85Glu | |
| ENST00000507754.8:c.253C>G | ENSP00000423673.1:p.Gln85Glu | |
| ENST00000555938.1:c.253C>G | ENSP00000452549.1:p.Gln85Glu | |
| ENST00000586674.1:n.263C>G | ||
| ENST00000606722.1:c.251C>G | ||
| NM_015965.6:c.253C>G | NP_057049.5:p.Gln85Glu | |
| NM_015965.7:c.253C>G MANE Select | NP_057049.5:p.Gln85Glu |