Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.166863829A>G , CM000663.2:g.166863829A>G | GRCh38 |
| NC_000001.10:g.166833066A>G , CM000663.1:g.166833066A>G | GRCh37 |
| NC_000001.9:g.165099690A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053053.4:c.325T>C MANE Select | NP_444281.1:p.Phe109Leu |
| ENST00000367874.5:c.325T>C MANE Select | ENSP00000356848.4:p.Phe109Leu |
| NM_053053.3:c.325T>C | NP_444281.1:p.Phe109Leu |
| ENST00000367874.4:c.325T>C | ENSP00000356848.4:p.Phe109Leu |