Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224262G= , CM000665.2:g.52224262G= | GRCh38 |
| NC_000003.11:g.52258278G= , CM000665.1:g.52258278G= | GRCh37 |
| NC_000003.10:g.52233318G= | NCBI36 |
| NG_033933.1:g.6902C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360658.3:c.54C= MANE Select | ENSP00000353874.2:p.Ile18= | |
| ENST00000360658.2:c.54C= | ENSP00000353874.2:p.Ile18= | |
| ENST00000478201.1:c.228C= | ||
| ENST00000494383.1:c.514C= | ||
| NM_017442.3:c.54C= | NP_059138.1:p.Ile18= | |
| NM_017442.4:c.54C= MANE Select | NP_059138.1:p.Ile18= |