Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157416057G>A , CM000669.2:g.157416057G>A | GRCh38 |
| NC_000007.13:g.157208751G>A , CM000669.1:g.157208751G>A | GRCh37 |
| NC_000007.12:g.156901512G>A | NCBI36 |
| NG_032573.1:g.84042G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_058246.4:c.940G>A MANE Select | NP_490647.1:p.Glu314Lys |
| ENST00000262177.9:c.940G>A MANE Select | ENSP00000262177.4:p.Glu314Lys |
| NM_001363676.1:c.595G>A | NP_001350605.1:p.Glu199Lys |
| NM_058246.3:c.940G>A | NP_490647.1:p.Glu314Lys |
| ENST00000262177.8:c.940G>A | ENSP00000262177.4:p.Glu314Lys |
| ENST00000443280.5:c.595G>A | ENSP00000396267.1:p.Glu199Lys |
| ENST00000459889.5:c.*5463G>A | ENSP00000488263.1:n.*5463G>A |
| XM_006715823.1:c.733G>A | XP_006715886.1:p.Glu245Lys |
| XM_006715823.2:c.733G>A | XP_006715886.1:p.Glu245Lys |