Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129774757C= , CM000669.2:g.129774757C= | GRCh38 |
| NC_000007.13:g.129414597C= , CM000669.1:g.129414597C= | GRCh37 |
| NC_000007.12:g.129201833C= | NCBI36 |
| NG_023385.1:g.5258G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_029512.1:n.13G= |