gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00051863 (EAS)
Genomes Max Group AF
0.00006828 (EAS)
Exomes Max Group AF
0.00054345 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133775570C>A , CM000665.2:g.133775570C>A | GRCh38 |
| NC_000003.11:g.133494414C>A , CM000665.1:g.133494414C>A | GRCh37 |
| NC_000003.10:g.134977104C>A | NCBI36 |
| NG_013080.1:g.34438C>A | |
| NG_013080.2:g.118573C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1825C>A MANE Select | ENSP00000385834.3:p.Arg609= | |
| ENST00000402696.7:c.1825C>A | ENSP00000385834.3:p.Arg609= | |
| ENST00000461695.1:c.556C>A | ||
| ENST00000467842.1:n.2819C>A | ||
| NM_001063.3:c.1825C>A | NP_001054.1:p.Arg609= | |
| XM_011513100.1:c.1825C>A | XP_011511402.1:p.Arg609= | |
| NM_001354703.1:c.1693C>A | NP_001341632.1:p.Arg565= | |
| NM_001354704.1:c.1444C>A | NP_001341633.1:p.Arg482= | |
| NM_001063.4:c.1825C>A MANE Select | NP_001054.2:p.Arg609= | |
| NM_001354703.2:c.1693C>A | NP_001341632.2:p.Arg565= | |
| NM_001354704.2:c.1444C>A | NP_001341633.2:p.Arg482= |