Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21178691C>A , CM000674.2:g.21178691C>A | GRCh38 |
| NC_000012.11:g.21331625C>A , CM000674.1:g.21331625C>A | GRCh37 |
| NC_000012.10:g.21222892C>A | NCBI36 |
| NG_011745.1:g.52498C>A , LRG_1022:g.52498C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.597C>A MANE Select | NP_006437.3:p.Phe199Leu |
| ENST00000256958.3:c.597C>A MANE Select | ENSP00000256958.2:p.Phe199Leu |
| NM_006446.4:c.597C>A , LRG_1022t1:c.597C>A | NP_006437.3:p.Phe199Leu |
| ENST00000256958.2:c.597C>A | ENSP00000256958.2:p.Phe199Leu |