Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.21594730T>C , CM000668.2:g.21594730T>C | GRCh38 |
| NC_000006.11:g.21594961T>C , CM000668.1:g.21594961T>C | GRCh37 |
| NC_000006.10:g.21702940T>C | NCBI36 |
| NG_029166.1:g.5990T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003107.3:c.196T>C MANE Select | NP_003098.1:p.Phe66Leu |
| ENST00000244745.4:c.196T>C MANE Select | ENSP00000244745.1:p.Phe66Leu |
| NM_003107.2:c.196T>C | NP_003098.1:p.Phe66Leu |
| ENST00000244745.2:c.196T>C | ENSP00000244745.1:p.Phe66Leu |