Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989001C>A , CM000672.2:g.94989001C>A | GRCh38 |
| NC_000010.10:g.96748758C>A , CM000672.1:g.96748758C>A | GRCh37 |
| NC_000010.9:g.96738748C>A | NCBI36 |
| NG_008385.1:g.55344C>A | |
| NG_008385.2:g.55844C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1446C>A MANE Select | ENSP00000260682.6:p.Phe482Leu | |
| ENST00000643112.1:c.*455C>A | ENSP00000496202.1:n.*455C>A | |
| ENST00000260682.6:c.1446C>A | ENSP00000260682.6:p.Phe482Leu | |
| NM_000771.3:c.1446C>A | NP_000762.2:p.Phe482Leu | |
| NM_000771.4:c.1446C>A MANE Select | NP_000762.2:p.Phe482Leu |