Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.77462543C= , CM000668.2:g.77462543C= | GRCh38 |
| NC_000006.11:g.78172260C= , CM000668.1:g.78172260C= | GRCh37 |
| NC_000006.10:g.78228979C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000863.3:c.861G= MANE Select | NP_000854.1:p.Val287= |
| ENST00000369947.5:c.861G= MANE Select | ENSP00000358963.3:p.Val287= |
| NM_000863.1:c.861G= | NP_000854.1:p.Val287= |
| NM_000863.2:c.861G= | NP_000854.1:p.Val287= |
| ENST00000369947.3:c.861G= | ENSP00000358963.2:p.Val287= |
| XR_942706.1:n.545-11983C= | |
| XR_942707.1:n.545-11983C= | |
| XR_942708.1:n.545-11983C= | |
| XR_942708.2:n.545-11983C= | |
| XR_942709.1:n.545-11983C= |