gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0002586 (EAS)
Exomes Max Group AF
0.00029302 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47985749T>C , CM000674.2:g.47985749T>C | GRCh38 |
| NC_000012.11:g.48379532T>C , CM000674.1:g.48379532T>C | GRCh37 |
| NC_000012.10:g.46665799T>C | NCBI36 |
| NG_008072.1:g.23754A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.1452A>G | ENSP00000338213.6:p.Glu484= | |
| ENST00000380518.8:c.1659A>G MANE Select | ENSP00000369889.3:p.Glu553= | |
| ENST00000337299.6:c.1452A>G | ENSP00000338213.6:p.Glu484= | |
| ENST00000380518.7:c.1659A>G | ENSP00000369889.3:p.Glu553= | |
| ENST00000493991.5:n.583A>G | ||
| NM_001844.4:c.1659A>G | NP_001835.3:p.Glu553= | |
| NM_033150.2:c.1452A>G | NP_149162.2:p.Glu484= | |
| XM_006719242.2:c.1803A>G | XP_006719305.2:p.Glu601= | |
| XM_011537928.1:c.1803A>G | XP_011536230.1:p.Glu601= | |
| XM_011537929.1:c.1803A>G | XP_011536231.1:p.Glu601= | |
| XM_011537930.1:c.1803A>G | XP_011536232.1:p.Glu601= | |
| XM_011537931.1:c.1803A>G | XP_011536233.1:p.Glu601= | |
| XM_011537932.1:c.1803A>G | XP_011536234.1:p.Glu601= | |
| XM_011537933.1:c.1803A>G | XP_011536235.1:p.Glu601= | |
| XM_011537934.1:c.1800A>G | XP_011536236.1:p.Glu600= | |
| XM_011537935.1:c.747A>G | XP_011536237.1:p.Glu249= | |
| XM_017018828.1:c.1803A>G | XP_016874317.1:p.Glu601= | |
| XM_017018829.1:c.1800A>G | XP_016874318.1:p.Glu600= | |
| XM_017018830.1:c.1593A>G | XP_016874319.1:p.Glu531= | |
| XM_017018831.2:c.1113A>G | XP_016874320.1:p.Glu371= | |
| NM_001844.5:c.1659A>G MANE Select | NP_001835.3:p.Glu553= | |
| NM_033150.3:c.1452A>G | NP_149162.2:p.Glu484= |