gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122257270T>G , CM000665.2:g.122257270T>G | GRCh38 |
| NC_000003.11:g.121976117T>G , CM000665.1:g.121976117T>G | GRCh37 |
| NC_000003.10:g.123458807T>G | NCBI36 |
| NG_009058.1:g.78588T>G | |
| NG_009058.2:g.78603T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.375T>G | ENSP00000418685.2:p.Leu125= | |
| ENST00000498619.4:c.375T>G | ENSP00000420194.1:p.Leu125= | |
| ENST00000638296.1:n.294T>G | ||
| ENST00000638421.1:c.375T>G | ENSP00000492190.1:p.Leu125= | |
| ENST00000639785.2:c.375T>G MANE Select | ENSP00000491584.2:p.Leu125= | |
| ENST00000490131.5:c.375T>G | ENSP00000418685.1:p.Leu125= | |
| ENST00000490186.1:n.234T>G | ||
| ENST00000498619.2:c.375T>G | ENSP00000420194.1:p.Leu125= | |
| NM_000388.3:c.375T>G | NP_000379.2:p.Leu125= | |
| NM_001178065.1:c.375T>G | NP_001171536.1:p.Leu125= | |
| XM_005247836.2:c.375T>G | XP_005247893.1:p.Leu125= | |
| XM_005247837.2:c.9+2896T>G | XP_005247894.1:n.9+2896T>G | |
| XM_006713789.2:c.375T>G | XP_006713852.1:p.Leu125= | |
| XM_011513237.1:c.375T>G | XP_011511539.1:p.Leu125= | |
| XM_011513238.1:c.375T>G | XP_011511540.1:p.Leu125= | |
| XM_006713789.3:c.375T>G | XP_006713852.1:p.Leu125= | |
| XM_017007324.1:c.375T>G | XP_016862813.1:p.Leu125= | |
| XM_017007325.1:c.375T>G | XP_016862814.1:p.Leu125= | |
| NM_000388.4:c.375T>G MANE Select | NP_000379.3:p.Leu125= | |
| NM_001178065.2:c.375T>G | NP_001171536.2:p.Leu125= |