Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7968255C= , CM000669.2:g.7968255C= | GRCh38 |
| NC_000007.13:g.8007886C= , CM000669.1:g.8007886C= | GRCh37 |
| NC_000007.12:g.7974411C= | NCBI36 |
| NG_032073.1:g.4513C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110018.1:n.209+289G= |