Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.21594732C>A , CM000668.2:g.21594732C>A | GRCh38 |
| NC_000006.11:g.21594963C>A , CM000668.1:g.21594963C>A | GRCh37 |
| NC_000006.10:g.21702942C>A | NCBI36 |
| NG_029166.1:g.5992C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003107.3:c.198C>A MANE Select | NP_003098.1:p.Phe66Leu |
| ENST00000244745.4:c.198C>A MANE Select | ENSP00000244745.1:p.Phe66Leu |
| NM_003107.2:c.198C>A | NP_003098.1:p.Phe66Leu |
| ENST00000244745.2:c.198C>A | ENSP00000244745.1:p.Phe66Leu |