Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21178689T>C , CM000674.2:g.21178689T>C | GRCh38 |
| NC_000012.11:g.21331623T>C , CM000674.1:g.21331623T>C | GRCh37 |
| NC_000012.10:g.21222890T>C | NCBI36 |
| NG_011745.1:g.52496T>C , LRG_1022:g.52496T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.595T>C MANE Select | NP_006437.3:p.Phe199Leu |
| ENST00000256958.3:c.595T>C MANE Select | ENSP00000256958.2:p.Phe199Leu |
| NM_006446.4:c.595T>C , LRG_1022t1:c.595T>C | NP_006437.3:p.Phe199Leu |
| ENST00000256958.2:c.595T>C | ENSP00000256958.2:p.Phe199Leu |