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:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01386666 (AFR)
Genomes Max Group AF
0.01271584 (AFR)
Exomes Max Group AF
0.01463779 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44418511A>G , CM000682.2:g.44418511A>G | GRCh38 |
| NC_000020.10:g.43047151A>G , CM000682.1:g.43047151A>G | GRCh37 |
| NC_000020.9:g.42480565A>G | NCBI36 |
| NG_009818.1:g.67711A>G , LRG_483:g.67711A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.669A>G MANE Select | ENSP00000315180.4:p.Leu223= | |
| ENST00000316099.10:c.735A>G | ENSP00000312987.3:p.Leu245= | |
| ENST00000619550.5:c.709A>G | ||
| ENST00000683148.1:n.711A>G | ||
| ENST00000683657.1:n.1859A>G | ||
| ENST00000316099.9:c.735A>G | ENSP00000312987.3:p.Leu245= | |
| ENST00000316099.8:c.735A>G | ENSP00000312987.3:p.Leu245= | |
| ENST00000316673.8:c.669A>G | ENSP00000315180.4:p.Leu223= | |
| ENST00000372920.1:c.*502A>G | ENSP00000362011.1:n.*502A>G | |
| ENST00000415691.2:c.735A>G | ENSP00000412111.1:p.Leu245= | |
| ENST00000443598.6:c.735A>G | ENSP00000410911.2:p.Leu245= | |
| ENST00000457232.5:c.669A>G | ENSP00000396216.1:p.Leu223= | |
| ENST00000609795.5:c.669A>G | ENSP00000476609.1:p.Leu223= | |
| ENST00000619550.4:c.660A>G | ENSP00000481331.1:p.Leu220= | |
| NM_000457.4:c.735A>G , LRG_483t2:c.735A>G | NP_000448.3:p.Leu245= | |
| NM_001030003.2:c.669A>G | NP_001025174.1:p.Leu223= | |
| NM_001030004.2:c.669A>G | NP_001025175.1:p.Leu223= | |
| NM_001258355.1:c.714A>G | NP_001245284.1:p.Leu238= | |
| NM_001287182.1:c.660A>G | NP_001274111.1:p.Leu220= | |
| NM_001287183.1:c.660A>G , LRG_483t3:c.660A>G | NP_001274112.1:p.Leu220= | |
| NM_001287184.1:c.660A>G | NP_001274113.1:p.Leu220= | |
| NM_175914.4:c.669A>G , LRG_483t1:c.669A>G | NP_787110.2:p.Leu223= | |
| NM_178849.2:c.735A>G | NP_849180.1:p.Leu245= | |
| NM_178850.2:c.735A>G | NP_849181.1:p.Leu245= | |
| XM_005260407.2:c.852A>G | XP_005260464.1:p.Leu284= | |
| XM_011528797.1:c.783A>G | XP_011527099.1:p.Leu261= | |
| XM_011528798.1:c.783A>G | XP_011527100.1:p.Leu261= | |
| XM_005260407.4:c.852A>G | XP_005260464.1:p.Leu284= | |
| NM_001030003.3:c.669A>G | NP_001025174.1:p.Leu223= | |
| NM_001030004.3:c.669A>G | NP_001025175.1:p.Leu223= | |
| NM_001258355.2:c.714A>G | NP_001245284.1:p.Leu238= | |
| NM_001287182.2:c.660A>G | NP_001274111.1:p.Leu220= | |
| NM_001287184.2:c.660A>G | NP_001274113.1:p.Leu220= | |
| NM_178849.3:c.735A>G | NP_849180.1:p.Leu245= | |
| NM_178850.3:c.735A>G | NP_849181.1:p.Leu245= | |
| NM_000457.5:c.735A>G | NP_000448.3:p.Leu245= | |
| NM_000457.6:c.735A>G | NP_000448.3:p.Leu245= | |
| NM_001287183.2:c.660A>G | NP_001274112.1:p.Leu220= | |
| NM_175914.5:c.669A>G MANE Select | NP_787110.2:p.Leu223= |