Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224182C>A , CM000665.2:g.52224182C>A | GRCh38 |
| NC_000003.11:g.52258198C>A , CM000665.1:g.52258198C>A | GRCh37 |
| NC_000003.10:g.52233238C>A | NCBI36 |
| NG_033933.1:g.6982G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.134G>T MANE Select | ENSP00000353874.2:p.Cys45Phe | |
| ENST00000360658.2:c.134G>T | ENSP00000353874.2:p.Cys45Phe | |
| ENST00000478201.1:c.308G>T | ||
| ENST00000494383.1:c.594G>T | ||
| NM_017442.3:c.134G>T | NP_059138.1:p.Cys45Phe | |
| NM_017442.4:c.134G>T MANE Select | NP_059138.1:p.Cys45Phe |