gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002863 (SAS)
Genomes Max Group AF
0.00007287 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21861825C>T , CM000663.2:g.21861825C>T | GRCh38 |
| NC_000001.10:g.22188318C>T , CM000663.1:g.22188318C>T | GRCh37 |
| NC_000001.9:g.22060905C>T | NCBI36 |
| NG_016740.1:g.80433G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4887G>A MANE Select | ENSP00000363827.3:p.Glu1629= | |
| ENST00000374695.7:c.4887G>A | ENSP00000363827.3:p.Glu1629= | |
| NM_001291860.1:c.4890G>A | NP_001278789.1:p.Glu1630= | |
| NM_005529.6:c.4887G>A | NP_005520.4:p.Glu1629= | |
| XM_006710594.2:c.5433G>A | XP_006710657.1:p.Glu1811= | |
| XM_006710595.2:c.5385G>A | XP_006710658.1:p.Glu1795= | |
| XM_006710596.2:c.5364G>A | XP_006710659.1:p.Glu1788= | |
| XM_006710597.2:c.4887G>A | XP_006710660.1:p.Glu1629= | |
| XM_011541317.1:c.5436G>A | XP_011539619.1:p.Glu1812= | |
| XM_011541318.1:c.5436G>A | XP_011539620.1:p.Glu1812= | |
| XM_011541319.1:c.5436G>A | XP_011539621.1:p.Glu1812= | |
| XM_011541320.1:c.5436G>A | XP_011539622.1:p.Glu1812= | |
| XM_011541321.1:c.4941G>A | XP_011539623.1:p.Glu1647= | |
| XM_011541322.1:c.5436G>A | XP_011539624.1:p.Glu1812= | |
| XM_011541318.2:c.5436G>A | XP_011539620.1:p.Glu1812= | |
| XM_017001120.1:c.5082G>A | XP_016856609.1:p.Glu1694= | |
| XM_017001121.1:c.5031G>A | XP_016856610.1:p.Glu1677= | |
| XM_017001122.1:c.5028G>A | XP_016856611.1:p.Glu1676= | |
| NM_005529.7:c.4887G>A MANE Select | NP_005520.4:p.Glu1629= | |
| NM_001291860.2:c.4890G>A | NP_001278789.1:p.Glu1630= |