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 v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19516255T>C , CM000681.2:g.19516255T>C | GRCh38 |
| NC_000019.9:g.19627064T>C , CM000681.1:g.19627064T>C | GRCh37 |
| NC_000019.8:g.19488064T>C | NCBI36 |
| NG_013380.1:g.5046T>C | |
| NG_033078.1:g.4406A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507754.9:c.17T>C MANE Select | ENSP00000423673.1:p.Val6Ala | |
| ENST00000428459.6:c.17T>C | ENSP00000465129.1:p.Val6Ala | |
| ENST00000502506.6:c.17T>C | ENSP00000467274.2:p.Val6Ala | |
| ENST00000503283.5:c.17T>C | ENSP00000468317.1:p.Val6Ala | |
| ENST00000507754.8:c.17T>C | ENSP00000423673.1:p.Val6Ala | |
| ENST00000511180.4:n.15T>C | ||
| ENST00000511584.2:n.26T>C | ||
| ENST00000555938.1:c.17T>C | ENSP00000452549.1:p.Val6Ala | |
| ENST00000586674.1:n.27T>C | ||
| NM_015965.6:c.17T>C | NP_057049.5:p.Val6Ala | |
| NM_015965.7:c.17T>C MANE Select | NP_057049.5:p.Val6Ala |