Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178983005C= , CM000667.2:g.178983005C= | GRCh38 |
| NC_000005.9:g.178410006C= , CM000667.1:g.178410006C= | GRCh37 |
| NC_000005.8:g.178342612C= | NCBI36 |
| NG_008105.1:g.17119G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000843.4:c.2341G= MANE Select | NP_000834.2:p.Glu781= |
| ENST00000517717.3:c.2341G= MANE Select | ENSP00000430767.1:p.Glu781= |
| NM_000843.3:c.2341G= | NP_000834.2:p.Glu781= |
| ENST00000231188.9:c.2341G= | ENSP00000231188.5:p.Glu781= |
| ENST00000517717.1:c.2341G= | ENSP00000430767.1:p.Glu781= |
| ENST00000519003.1:n.340G= | |
| ENST00000650031.1:c.2341G= | ENSP00000497110.1:p.Glu781= |
| ENST00000650488.1:n.1064G= | |
| XR_941310.1:n.1470-6742C= |