Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.26481832C= , CM000666.2:g.26481832C= | GRCh38 |
| NC_000004.11:g.26483454C= , CM000666.1:g.26483454C= | GRCh37 |
| NC_000004.10:g.26092552C= | NCBI36 |
| NG_012053.1:g.13589G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000730.3:c.1093G= MANE Select | NP_000721.1:p.Val365= |
| ENST00000295589.4:c.1093G= MANE Select | ENSP00000295589.3:p.Val365= |
| NM_000730.2:c.1093G= | NP_000721.1:p.Val365= |
| ENST00000295589.3:c.1093G= | ENSP00000295589.3:p.Val365= |