Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86512989C>T , CM000678.2:g.86512989C>T | GRCh38 |
| NC_000016.9:g.86546595C>T , CM000678.1:g.86546595C>T | GRCh37 |
| NC_000016.8:g.85104096C>T | NCBI36 |
| NG_016273.1:g.7463C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.1044C>T MANE Select | NP_001442.2:p.Phe348= |
| ENST00000262426.6:c.1044C>T MANE Select | ENSP00000262426.4:p.Phe348= |
| NM_001451.2:c.1044C>T | NP_001442.2:p.Phe348= |
| ENST00000262426.5:c.1044C>T | ENSP00000262426.4:p.Phe348= |