Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800170C>T , CM000666.2:g.24800170C>T | GRCh38 |
| NC_000004.11:g.24801792C>T , CM000666.1:g.24801792C>T | GRCh37 |
| NC_000004.10:g.24410890C>T | NCBI36 |
| NG_012213.1:g.9708C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.649C>T MANE Select | ENSP00000371554.3:p.Leu217Phe | |
| ENST00000382120.3:c.649C>T | ENSP00000371554.3:p.Leu217Phe | |
| NM_003102.2:c.649C>T | NP_003093.2:p.Leu217Phe | |
| XR_427488.1:n.839C>T | ||
| NM_003102.3:c.649C>T | NP_003093.2:p.Leu217Phe | |
| NM_003102.4:c.649C>T MANE Select | NP_003093.2:p.Leu217Phe |