gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90477297 (AFR)
Genomes Max Group AF
0.90049906 (AFR)
Exomes Max Group AF
0.90480665 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.78127263T>C , CM000669.2:g.78127263T>C | GRCh38 |
| NC_000007.13:g.77756580T>C , CM000669.1:g.77756580T>C | GRCh37 |
| NC_000007.12:g.77594516T>C | NCBI36 |
| NG_011487.1:g.1331311A>G | |
| NG_011487.2:g.1331312A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354212.9:c.3357A>G MANE Select | ENSP00000346151.4:p.Leu1119= | |
| ENST00000637282.1:c.2136A>G | ENSP00000490637.1:p.Leu712= | |
| ENST00000637441.1:c.3129A>G | ENSP00000489633.1:p.Leu1043= | |
| ENST00000637486.1:c.*1459A>G | ENSP00000490080.1:n.*1459A>G | |
| ENST00000354212.8:c.3357A>G | ENSP00000346151.4:p.Leu1119= | |
| ENST00000419488.5:c.3315A>G | ENSP00000405766.1:p.Leu1105= | |
| ENST00000519748.5:c.2136A>G | ENSP00000486774.1:p.Leu712= | |
| ENST00000522391.3:c.3357A>G | ENSP00000428389.1:p.Leu1119= | |
| ENST00000535697.5:c.2901A>G | ENSP00000441603.3:p.Leu967= | |
| ENST00000626691.2:c.2868A>G | ENSP00000486131.1:p.Leu956= | |
| ENST00000628980.2:c.2943A>G | ENSP00000487526.1:p.Leu981= | |
| ENST00000629359.2:c.2826A>G | ENSP00000487448.1:p.Leu942= | |
| NM_001301128.1:c.3315A>G | NP_001288057.1:p.Leu1105= | |
| NM_012301.3:c.3357A>G | NP_036433.2:p.Leu1119= | |
| XM_011516718.1:c.3357A>G | XP_011515020.1:p.Leu1119= | |
| XM_011516719.1:c.2997A>G | XP_011515021.1:p.Leu999= | |
| XM_011516720.1:c.2997A>G | XP_011515022.1:p.Leu999= | |
| XM_011516721.1:c.2826A>G | XP_011515023.1:p.Leu942= | |
| XM_011516722.1:c.2817A>G | XP_011515024.1:p.Leu939= | |
| XM_011516723.1:c.3357A>G | XP_011515025.1:p.Leu1119= | |
| XM_011516724.1:c.3357A>G | XP_011515026.1:p.Leu1119= | |
| XM_011516725.1:c.3357A>G | XP_011515027.1:p.Leu1119= | |
| XM_011516726.1:c.2313A>G | XP_011515028.1:p.Leu771= | |
| XM_011516727.1:c.2313A>G | XP_011515029.1:p.Leu771= | |
| XM_011516728.1:c.2184A>G | XP_011515030.1:p.Leu728= | |
| XM_011516729.1:c.2136A>G | XP_011515031.1:p.Leu712= | |
| XM_011516718.2:c.3357A>G | XP_011515020.1:p.Leu1119= | |
| XM_011516719.3:c.2997A>G | XP_011515021.1:p.Leu999= | |
| XM_011516720.3:c.2997A>G | XP_011515022.1:p.Leu999= | |
| XM_011516726.3:c.2313A>G | XP_011515028.1:p.Leu771= | |
| XM_017012840.2:c.3486A>G | XP_016868329.1:p.Leu1162= | |
| XM_017012841.2:c.3483A>G | XP_016868330.1:p.Leu1161= | |
| XM_017012842.2:c.3480A>G | XP_016868331.1:p.Leu1160= | |
| XM_017012843.2:c.3444A>G | XP_016868332.1:p.Leu1148= | |
| XM_017012844.2:c.3486A>G | XP_016868333.1:p.Leu1162= | |
| XM_017012845.2:c.3351A>G | XP_016868334.1:p.Leu1117= | |
| XM_017012846.2:c.3315A>G | XP_016868335.1:p.Leu1105= | |
| XM_017012847.2:c.2997A>G | XP_016868336.1:p.Leu999= | |
| XM_017012848.2:c.2868A>G | XP_016868337.1:p.Leu956= | |
| XM_017012849.2:c.2862A>G | XP_016868338.1:p.Leu954= | |
| XM_017012850.2:c.3486A>G | XP_016868339.1:p.Leu1162= | |
| XM_017012851.2:c.3486A>G | XP_016868340.1:p.Leu1162= | |
| XM_017012852.2:c.3486A>G | XP_016868341.1:p.Leu1162= | |
| XM_024447009.1:c.2997A>G | XP_024302777.1:p.Leu999= | |
| NM_012301.4:c.3357A>G MANE Select | NP_036433.2:p.Leu1119= | |
| NM_001301128.2:c.3315A>G | NP_001288057.1:p.Leu1105= |