gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004363 (EAS)
Genomes Max Group AF
0.00016413 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1840812C>A , CM000674.2:g.1840812C>A | GRCh38 |
| NC_000012.11:g.1949978C>A , CM000674.1:g.1949978C>A | GRCh37 |
| NC_000012.10:g.1820239C>A | NCBI36 |
| NG_012663.1:g.82893G>T | |
| NG_012663.2:g.82893G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382722.10:c.2478G>T MANE Select | ENSP00000372169.4:p.Ala826= | |
| ENST00000280663.12:n.2671G>T | ||
| ENST00000382722.9:c.2478G>T | ENSP00000372169.4:p.Ala826= | |
| ENST00000444595.6:c.*724G>T | ENSP00000403371.2:n.*724G>T | |
| ENST00000537784.5:c.319G>T | ||
| ENST00000585708.5:c.2286G>T | ENSP00000467697.1:p.Ala762= | |
| ENST00000585732.1:c.2061G>T | ENSP00000468080.1:p.Ala687= | |
| ENST00000586184.5:c.2478G>T | ENSP00000465060.1:p.Ala826= | |
| ENST00000587995.5:c.2403G>T | ENSP00000465372.1:p.Ala801= | |
| ENST00000588077.5:c.2286G>T | ENSP00000468530.1:p.Ala762= | |
| NM_172364.4:c.2478G>T | NP_758952.4:p.Ala826= | |
| XM_011521041.1:c.2415G>T | XP_011519343.1:p.Ala805= | |
| XM_011521041.2:c.2415G>T | XP_011519343.1:p.Ala805= | |
| NM_172364.5:c.2478G>T MANE Select | NP_758952.4:p.Ala826= |