Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.166863827A>T , CM000663.2:g.166863827A>T | GRCh38 |
| NC_000001.10:g.166833064A>T , CM000663.1:g.166833064A>T | GRCh37 |
| NC_000001.9:g.165099688A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053053.4:c.327T>A MANE Select | NP_444281.1:p.Phe109Leu |
| ENST00000367874.5:c.327T>A MANE Select | ENSP00000356848.4:p.Phe109Leu |
| NM_053053.3:c.327T>A | NP_444281.1:p.Phe109Leu |
| ENST00000367874.4:c.327T>A | ENSP00000356848.4:p.Phe109Leu |