Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52492681G>A , CM000674.2:g.52492681G>A | GRCh38 |
| NC_000012.11:g.52886465G>A , CM000674.1:g.52886465G>A | GRCh37 |
| NC_000012.10:g.51172732G>A | NCBI36 |
| NG_008298.1:g.5717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.508C>T MANE Select | ENSP00000369317.3:p.Leu170Phe | |
| ENST00000330722.6:c.508C>T | ENSP00000369317.3:p.Leu170Phe | |
| ENST00000549898.5:n.29C>T | ||
| NM_005554.3:c.508C>T | NP_005545.1:p.Leu170Phe | |
| NM_005554.4:c.508C>T MANE Select | NP_005545.1:p.Leu170Phe |