Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7968198C= , CM000669.2:g.7968198C= | GRCh38 |
| NC_000007.13:g.8007829C= , CM000669.1:g.8007829C= | GRCh37 |
| NC_000007.12:g.7974354C= | NCBI36 |
| NG_032073.1:g.4456C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110018.1:n.209+346G= |