Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224172C= , CM000665.2:g.52224172C= | GRCh38 |
| NC_000003.11:g.52258188C= , CM000665.1:g.52258188C= | GRCh37 |
| NC_000003.10:g.52233228C= | NCBI36 |
| NG_033933.1:g.6992G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360658.3:c.144G= MANE Select | ENSP00000353874.2:p.Leu48= | |
| ENST00000360658.2:c.144G= | ENSP00000353874.2:p.Leu48= | |
| ENST00000478201.1:c.318G= | ||
| ENST00000494383.1:c.604G= | ||
| NM_017442.3:c.144G= | NP_059138.1:p.Leu48= | |
| NM_017442.4:c.144G= MANE Select | NP_059138.1:p.Leu48= |