Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224368C= , CM000665.2:g.52224368C= | GRCh38 |
| NC_000003.11:g.52258384C= , CM000665.1:g.52258384C= | GRCh37 |
| NC_000003.10:g.52233424C= | NCBI36 |
| NG_033933.1:g.6796G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360658.3:c.4-56G= MANE Select | ENSP00000353874.2:n.4-56G= | |
| ENST00000360658.2:c.4-56G= | ENSP00000353874.2:n.4-56G= | |
| ENST00000478201.1:c.223-101G= | ||
| ENST00000494383.1:c.464-56G= | ||
| NM_017442.3:c.4-56G= | NP_059138.1:n.4-56G= | |
| NM_017442.4:c.4-56G= MANE Select | NP_059138.1:n.4-56G= |