Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86513015A>T , CM000678.2:g.86513015A>T | GRCh38 |
| NC_000016.9:g.86546621A>T , CM000678.1:g.86546621A>T | GRCh37 |
| NC_000016.8:g.85104122A>T | NCBI36 |
| NG_016273.1:g.7489A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.1070A>T MANE Select | NP_001442.2:p.His357Leu |
| ENST00000262426.6:c.1070A>T MANE Select | ENSP00000262426.4:p.His357Leu |
| NM_001451.2:c.1070A>T | NP_001442.2:p.His357Leu |
| ENST00000262426.5:c.1070A>T | ENSP00000262426.4:p.His357Leu |