Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224171A= , CM000665.2:g.52224171A= | GRCh38 |
| NC_000003.11:g.52258187A= , CM000665.1:g.52258187A= | GRCh37 |
| NC_000003.10:g.52233227A= | NCBI36 |
| NG_033933.1:g.6993T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.145T= MANE Select | ENSP00000353874.2:p.Phe49= | |
| ENST00000360658.2:c.145T= | ENSP00000353874.2:p.Phe49= | |
| ENST00000478201.1:c.319T= | ||
| ENST00000494383.1:c.605T= | ||
| NM_017442.3:c.145T= | NP_059138.1:p.Phe49= | |
| NM_017442.4:c.145T= MANE Select | NP_059138.1:p.Phe49= |