gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00098567 (EAS)
Genomes Max Group AF
0.00193103 (EAS)
Exomes Max Group AF
0.00075975 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7549978C>T , CM000681.2:g.7549978C>T | GRCh38 |
| NC_000019.9:g.7614864C>T , CM000681.1:g.7614864C>T | GRCh37 |
| NC_000019.8:g.7520864C>T | NCBI36 |
| NG_013374.1:g.20827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.1680C>T MANE Select | ENSP00000473211.1:p.Asp560= | |
| ENST00000221249.10:c.1563C>T | ENSP00000221249.5:p.Asp521= | |
| ENST00000414982.7:c.1707C>T | ENSP00000407509.2:p.Asp569= | |
| ENST00000450331.7:c.1563C>T | ENSP00000394348.2:p.Asp521= | |
| ENST00000545201.6:c.1485C>T | ENSP00000443323.1:p.Asp495= | |
| ENST00000594864.1:n.138C>T | ||
| ENST00000595176.5:n.749C>T | ||
| ENST00000595889.1:n.481C>T | ||
| ENST00000599311.5:n.793C>T | ||
| ENST00000600737.5:c.1680C>T | ENSP00000473211.1:p.Asp560= | |
| NM_001166111.1:c.1707C>T | NP_001159583.1:p.Asp569= | |
| NM_001166112.1:c.1485C>T | NP_001159584.1:p.Asp495= | |
| NM_001166113.1:c.1563C>T | NP_001159585.1:p.Asp521= | |
| NM_001166114.1:c.1680C>T | NP_001159586.1:p.Asp560= | |
| NM_006702.4:c.1563C>T | NP_006693.3:p.Asp521= | |
| NM_001166111.2:c.1707C>T | NP_001159583.1:p.Asp569= | |
| NM_001166114.2:c.1680C>T MANE Select | NP_001159586.1:p.Asp560= | |
| NM_006702.5:c.1563C>T | NP_006693.3:p.Asp521= | |
| NM_001166112.2:c.1485C>T | NP_001159584.1:p.Asp495= |