Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110919145A= , CM000674.2:g.110919145A= | GRCh38 |
| NC_000012.11:g.111356949A= , CM000674.1:g.111356949A= | GRCh37 |
| NC_000012.10:g.109841332A= | NCBI36 |
| NG_007554.1:g.6433T= , LRG_393:g.6433T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000432.4:c.52T= MANE Select | NP_000423.2:p.Phe18= |
| ENST00000228841.15:c.52T= MANE Select | ENSP00000228841.8:p.Phe18= |
| NM_000432.3:c.52T= , LRG_393t1:c.52T= | NP_000423.2:p.Phe18= |
| ENST00000228841.12:c.52T= | ENSP00000228841.7:p.Phe18= |
| ENST00000546404.1:n.245T= | |
| ENST00000548438.1:c.52T= | ENSP00000447154.1:p.Phe18= |
| ENST00000663220.1:c.-6T= | ENSP00000499568.1:n.-6T= |