Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519774G= , CM000674.2:g.52519774G= | GRCh38 |
| NC_000012.11:g.52913558G= , CM000674.1:g.52913558G= | GRCh37 |
| NC_000012.10:g.51199825G= | NCBI36 |
| NG_008297.1:g.5686C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.523C= MANE Select | NP_000415.2:p.Leu175= |
| ENST00000252242.9:c.523C= MANE Select | ENSP00000252242.4:p.Leu175= |
| NM_000424.3:c.523C= | NP_000415.2:p.Leu175= |
| ENST00000252242.8:c.523C= | ENSP00000252242.4:p.Leu175= |
| ENST00000549420.1:c.193C= | ENSP00000447209.1:p.Leu65= |
| ENST00000551275.1:c.418C= | ENSP00000448041.1:p.Leu140= |
| ENST00000552629.5:n.621C= |