gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00457435 (SAS)
Genomes Max Group AF
0.00240992 (SAS)
Exomes Max Group AF
0.00462993 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952454G>A , CM000669.2:g.150952454G>A | GRCh38 |
| NC_000007.13:g.150649542G>A , CM000669.1:g.150649542G>A | GRCh37 |
| NC_000007.12:g.150280475G>A | NCBI36 |
| NG_008916.1:g.30473C>T , LRG_288:g.30473C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.826C>T | ||
| ENST00000684116.1:n.421C>T | ||
| ENST00000684241.1:n.2361C>T | ||
| ENST00000262186.10:c.1528C>T MANE Select | ENSP00000262186.5:p.Leu510= | |
| ENST00000330883.9:c.508C>T | ENSP00000328531.4:p.Leu170= | |
| ENST00000262186.9:c.1528C>T | ENSP00000262186.5:p.Leu510= | |
| ENST00000330883.8:c.508C>T | ENSP00000328531.4:p.Leu170= | |
| ENST00000430723.4:c.1180C>T | ENSP00000387657.4:p.Leu394= | |
| ENST00000461280.1:n.815C>T | ||
| ENST00000473610.5:n.833C>T | ||
| ENST00000532957.5:n.1751C>T | ||
| NM_000238.3:c.1528C>T , LRG_288t1:c.1528C>T | NP_000229.1:p.Leu510= | |
| NM_001204798.1:c.508C>T | NP_001191727.1:p.Leu170= | |
| NM_172056.2:c.1528C>T , LRG_288t2:c.1528C>T | NP_742053.1:p.Leu510= | |
| NM_172057.2:c.508C>T , LRG_288t3:c.508C>T | NP_742054.1:p.Leu170= | |
| XM_011516185.1:c.1228C>T | XP_011514487.1:p.Leu410= | |
| XM_011516186.1:c.1528C>T | XP_011514488.1:p.Leu510= | |
| XM_011516185.2:c.1228C>T | XP_011514487.1:p.Leu410= | |
| XM_011516186.3:c.1528C>T | XP_011514488.1:p.Leu510= | |
| XM_017012195.1:c.1378C>T | XP_016867684.1:p.Leu460= | |
| XM_017012196.1:c.1351C>T | XP_016867685.1:p.Leu451= | |
| NM_000238.4:c.1528C>T MANE Select | NP_000229.1:p.Leu510= | |
| NM_001204798.2:c.508C>T | NP_001191727.1:p.Leu170= | |
| NM_172057.3:c.508C>T | NP_742054.1:p.Leu170= |