This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
COSMIC:
COSM424810
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66392556 (AFR)
Genomes Max Group AF
0.65463187 (AFR)
Exomes Max Group AF
0.67092048 (AFR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186081285A>G , CM000663.2:g.186081285A>G | GRCh38 |
| NC_000001.10:g.186050417A>G , CM000663.1:g.186050417A>G | GRCh37 |
| NC_000001.9:g.184317040A>G | NCBI36 |
| NG_011841.1:g.351735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.8678A>G MANE Select | ENSP00000271588.4:p.Glu2893Gly | |
| ENST00000271588.8:c.8678A>G | ENSP00000271588.4:p.Glu2893Gly | |
| NM_031935.2:c.8678A>G | NP_114141.2:p.Glu2893Gly | |
| XM_011510037.1:c.8678A>G | XP_011508339.1:p.Glu2893Gly | |
| XM_011510038.1:c.8678A>G | XP_011508340.1:p.Glu2893Gly | |
| XM_011510039.1:c.8678A>G | XP_011508341.1:p.Glu2893Gly | |
| XM_011510040.1:c.8678A>G | XP_011508342.1:p.Glu2893Gly | |
| XM_011510041.1:c.8678A>G | XP_011508343.1:p.Glu2893Gly | |
| XM_011510038.3:c.8678A>G | XP_011508340.1:p.Glu2893Gly | |
| XM_011510041.3:c.8678A>G | XP_011508343.1:p.Glu2893Gly | |
| XM_017002437.1:c.6701A>G | XP_016857926.1:p.Glu2234Gly | |
| XM_024450118.1:c.8678A>G | XP_024305886.1:p.Glu2893Gly | |
| NM_031935.3:c.8678A>G MANE Select | NP_114141.2:p.Glu2893Gly |