Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57950391T>C , CM000678.2:g.57950391T>C | GRCh38 |
| NC_000016.9:g.57984295T>C , CM000678.1:g.57984295T>C | GRCh37 |
| NC_000016.8:g.56541796T>C | NCBI36 |
| NG_016351.1:g.25726A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001297.5:c.1024A>G MANE Select | NP_001288.3:p.Lys342Glu |
| ENST00000251102.13:c.1024A>G MANE Select | ENSP00000251102.8:p.Lys342Glu |
| NM_001286130.1:c.1006A>G | NP_001273059.1:p.Lys336Glu |
| NM_001286130.2:c.1006A>G | NP_001273059.1:p.Lys336Glu |
| NM_001297.4:c.1024A>G | NP_001288.3:p.Lys342Glu |
| ENST00000251102.12:c.1024A>G | ENSP00000251102.8:p.Lys342Glu |
| ENST00000564448.5:c.1006A>G | ENSP00000454633.1:p.Lys336Glu |
| XM_006721134.2:c.1024A>G | XP_006721197.1:p.Lys342Glu |