Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765320T= , CM000674.2:g.57765320T= | GRCh38 |
| NC_000012.11:g.58159103T= , CM000674.1:g.58159103T= | GRCh37 |
| NC_000012.10:g.56445370T= | NCBI36 |
| NG_007076.1:g.6874A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.566A= MANE Select | NP_000776.1:p.Glu189= |
| ENST00000228606.9:c.566A= MANE Select | ENSP00000228606.4:p.Glu189= |
| NM_000785.3:c.566A= | NP_000776.1:p.Glu189= |
| ENST00000228606.8:c.566A= | ENSP00000228606.4:p.Glu189= |
| ENST00000546567.5:c.-140A= | ENSP00000449472.1:n.-140A= |
| ENST00000546609.1:c.478A= | |
| ENST00000546609.2:n.478A= | |
| ENST00000547344.5:n.620A= | |
| ENST00000547451.1:n.366A= | |
| ENST00000713544.1:c.647A= | ENSP00000518840.1:p.Glu216= |
| ENST00000713545.1:c.624A= | ENSP00000518841.1:p.Gly208= |