gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009021 (EAS)
Genomes Max Group AF
0.00006835 (EAS)
Exomes Max Group AF
0.00004903 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89648402C>T , CM000677.2:g.89648402C>T | GRCh38 |
| NC_000015.9:g.90191633C>T , CM000677.1:g.90191633C>T | GRCh37 |
| NC_000015.8:g.87992637C>T | NCBI36 |
| NG_030338.1:g.12050G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.1419G>A | ENSP00000512678.1:p.Leu473= | |
| ENST00000394412.8:c.1296G>A MANE Select | ENSP00000377934.3:p.Leu432= | |
| ENST00000394412.7:c.1296G>A | ENSP00000377934.3:p.Leu432= | |
| NM_198525.2:c.1296G>A | NP_940927.2:p.Leu432= | |
| XM_005254902.2:c.1296G>A | XP_005254959.1:p.Leu432= | |
| XM_011521531.1:c.1419G>A | XP_011519833.1:p.Leu473= | |
| XM_011521532.1:c.1419G>A | XP_011519834.1:p.Leu473= | |
| XM_011521533.1:c.1419G>A | XP_011519835.1:p.Leu473= | |
| XM_011521534.1:c.1419G>A | XP_011519836.1:p.Leu473= | |
| XM_011521535.1:c.1419G>A | XP_011519837.1:p.Leu473= | |
| XM_011521536.1:c.1419G>A | XP_011519838.1:p.Leu473= | |
| XM_011521537.1:c.1419G>A | XP_011519839.1:p.Leu473= | |
| XM_011521531.2:c.1419G>A | XP_011519833.1:p.Leu473= | |
| NM_198525.3:c.1296G>A MANE Select | NP_940927.2:p.Leu432= |