Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646505C= , CM000665.2:g.81646505C= | GRCh38 |
| NC_000003.11:g.81695656C= , CM000665.1:g.81695656C= | GRCh37 |
| NC_000003.10:g.81778346C= | NCBI36 |
| NG_011810.1:g.120296G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.692-23G= MANE Select | ENSP00000410833.2:n.692-23G= | |
| ENST00000429644.6:c.692-23G= | ENSP00000410833.2:n.692-23G= | |
| ENST00000489715.1:c.569-23G= | ENSP00000419638.1:n.569-23G= | |
| ENST00000498468.1:n.220-1G= | ||
| NM_000158.3:c.692-23G= | NP_000149.3:n.692-23G= | |
| NM_000158.4:c.692-23G= MANE Select | NP_000149.4:n.692-23G= |