Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30830214C= , CM000668.2:g.30830214C= | GRCh38 |
| NC_000006.11:g.30797991C= , CM000668.1:g.30797991C= | GRCh37 |
| NC_000006.10:g.30905970C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130726.1:n.145+301G= |