Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.77461407C= , CM000668.2:g.77461407C= | GRCh38 |
| NC_000006.11:g.78171124C= , CM000668.1:g.78171124C= | GRCh37 |
| NC_000006.10:g.78227843C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000863.3:c.*824G= MANE Select | NP_000854.1:n.*824G= |
| ENST00000369947.5:c.*824G= MANE Select | ENSP00000358963.3:n.*824G= |
| NM_000863.2:c.*824G= | NP_000854.1:n.*824G= |
| XR_942706.1:n.545-13119C= | |
| XR_942707.1:n.545-13119C= | |
| XR_942708.1:n.545-13119C= | |
| XR_942708.2:n.545-13119C= | |
| XR_942709.1:n.545-13119C= |