Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224182C= , CM000665.2:g.52224182C= | GRCh38 |
| NC_000003.11:g.52258198C= , CM000665.1:g.52258198C= | GRCh37 |
| NC_000003.10:g.52233238C= | NCBI36 |
| NG_033933.1:g.6982G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.134G= MANE Select | ENSP00000353874.2:p.Cys45= | |
| ENST00000360658.2:c.134G= | ENSP00000353874.2:p.Cys45= | |
| ENST00000478201.1:c.308G= | ||
| ENST00000494383.1:c.594G= | ||
| NM_017442.3:c.134G= | NP_059138.1:p.Cys45= | |
| NM_017442.4:c.134G= MANE Select | NP_059138.1:p.Cys45= |