gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12089252A>G , CM000672.2:g.12089252A>G | GRCh38 |
| NC_000010.10:g.12131251A>G , CM000672.1:g.12131251A>G | GRCh37 |
| NC_000010.9:g.12171257A>G | NCBI36 |
| NG_033248.1:g.25336A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.984A>G MANE Select | ENSP00000263035.4:p.Leu328= | |
| ENST00000263035.8:c.984A>G | ENSP00000263035.4:p.Leu328= | |
| ENST00000415935.1:c.78A>G | ENSP00000400625.1:p.Leu26= | |
| ENST00000437298.1:c.789A>G | ENSP00000388163.1:p.Leu263= | |
| ENST00000465617.1:n.299+1523A>G | ||
| NM_018706.6:c.984A>G | NP_061176.3:p.Leu328= | |
| NM_018706.7:c.984A>G MANE Select | NP_061176.4:p.Leu328= |