Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256028C= , CM000676.2:g.24256028C= | GRCh38 |
| NC_000014.8:g.24725234C= , CM000676.1:g.24725234C= | GRCh37 |
| NC_000014.7:g.23795074C= | NCBI36 |
| NG_007150.1:g.12139G= | |
| NG_007150.2:g.12139G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1452G= MANE Select | ENSP00000206765.6:p.Leu484= | |
| ENST00000206765.10:c.1452G= | ENSP00000206765.6:p.Leu484= | |
| ENST00000544573.5:c.126G= | ENSP00000439446.1:p.Leu42= | |
| ENST00000559136.1:c.525G= | ENSP00000453337.1:p.Leu175= | |
| NM_000359.2:c.1452G= | NP_000350.1:p.Leu484= | |
| NM_000359.3:c.1452G= MANE Select | NP_000350.1:p.Leu484= |