gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01454449 (AFR)
Genomes Max Group AF
0.0135246 (AFR)
Exomes Max Group AF
0.0149817 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53405804C>T , CM000685.2:g.53405804C>T | GRCh38 |
| NC_000023.10:g.53432736C>T , CM000685.1:g.53432736C>T | GRCh37 |
| NC_000023.9:g.53449461C>T | NCBI36 |
| NG_006988.2:g.21867G>A , LRG_773:g.21867G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1698G>A MANE Select | ENSP00000323421.3:p.Glu566= | |
| ENST00000674590.1:c.930G>A | ENSP00000502626.1:p.Glu310= | |
| ENST00000675065.1:n.1050G>A | ||
| ENST00000675504.1:c.1632G>A | ENSP00000502524.1:p.Glu544= | |
| ENST00000322213.8:c.1698G>A | ENSP00000323421.3:p.Glu566= | |
| ENST00000375340.10:c.1632G>A | ENSP00000364489.7:p.Glu544= | |
| NM_001281463.1:c.1632G>A , LRG_773t1:c.1632G>A | NP_001268392.1:p.Glu544= | |
| NM_006306.3:c.1698G>A , LRG_773t2:c.1698G>A | NP_006297.2:p.Glu566= | |
| NM_006306.4:c.1698G>A MANE Select | NP_006297.2:p.Glu566= |