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
0.00000557 (AMR)
Exomes Max Group AF
0.0000075 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247300791C>G , CM000663.2:g.247300791C>G | GRCh38 |
| NC_000001.10:g.247464093C>G , CM000663.1:g.247464093C>G | GRCh37 |
| NC_000001.9:g.245530716C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682384.1:c.1492G>C MANE Select | ENSP00000507236.1:p.Glu498Gln | |
| ENST00000294753.8:c.1492G>C | ENSP00000294753.4:p.Glu498Gln | |
| ENST00000461277.2:c.1267G>C | ENSP00000473324.1:p.Glu423Gln | |
| ENST00000462139.1:n.5864G>C | ||
| NM_032752.1:c.1492G>C | NP_116141.1:p.Glu498Gln | |
| XM_005273328.3:c.1600G>C | XP_005273385.1:p.Glu534Gln | |
| XM_005273330.3:c.1492G>C | XP_005273387.1:p.Glu498Gln | |
| XM_011544310.1:c.1693G>C | XP_011542612.1:p.Glu565Gln | |
| XM_011544311.1:c.1633G>C | XP_011542613.1:p.Glu545Gln | |
| XM_011544312.1:c.1585G>C | XP_011542614.1:p.Glu529Gln | |
| NM_032752.2:c.1492G>C | NP_116141.1:p.Glu498Gln | |
| XM_017002586.1:c.1786G>C | XP_016858075.1:p.Glu596Gln | |
| XM_017002587.1:c.1726G>C | XP_016858076.1:p.Glu576Gln | |
| XM_017002588.1:c.1693G>C | XP_016858077.1:p.Glu565Gln | |
| XM_017002589.1:c.1678G>C | XP_016858078.1:p.Glu560Gln | |
| XM_017002590.1:c.1585G>C | XP_016858079.1:p.Glu529Gln | |
| XM_017002591.1:c.1432G>C | XP_016858080.1:p.Glu478Gln | |
| XM_017002594.1:c.901G>C | XP_016858083.1:p.Glu301Gln | |
| XM_024450375.1:c.1525G>C | XP_024306143.1:p.Glu509Gln | |
| NM_032752.3:c.1492G>C MANE Select | NP_116141.1:p.Glu498Gln |