Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168687G= , CM000673.2:g.118168687G= | GRCh38 |
| NC_000011.9:g.118039402G= , CM000673.1:g.118039402G= | GRCh37 |
| NC_000011.8:g.117544612G= | NCBI36 |
| NG_042217.1:g.12936C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.135C= MANE Select | ENSP00000278947.5:p.Asp45= | |
| ENST00000658882.1:c.239C= | ENSP00000499572.1:p.Thr80= | |
| ENST00000665446.1:n.371C= | ||
| ENST00000669850.1:n.377C= | ||
| ENST00000278947.5:c.135C= | ENSP00000278947.5:p.Asp45= | |
| NM_004588.4:c.135C= | NP_004579.1:p.Asp45= | |
| NM_004588.5:c.135C= MANE Select | NP_004579.1:p.Asp45= |