Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520161A>T , CM000674.2:g.52520161A>T | GRCh38 |
| NC_000012.11:g.52913945A>T , CM000674.1:g.52913945A>T | GRCh37 |
| NC_000012.10:g.51200212A>T | NCBI36 |
| NG_008297.1:g.5299T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.136T>A MANE Select | NP_000415.2:p.Phe46Ile |
| ENST00000252242.9:c.136T>A MANE Select | ENSP00000252242.4:p.Phe46Ile |
| NM_000424.3:c.136T>A | NP_000415.2:p.Phe46Ile |
| ENST00000252242.8:c.136T>A | ENSP00000252242.4:p.Phe46Ile |
| ENST00000546577.1:c.136T>A | ENSP00000449651.1:p.Phe46Ile |
| ENST00000549420.1:c.43+93T>A | ENSP00000447209.1:n.43+93T>A |
| ENST00000551275.1:c.136T>A | ENSP00000448041.1:p.Phe46Ile |
| ENST00000552629.5:n.234T>A |