Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10303778C= , CM000673.2:g.10303778C= | GRCh38 |
| NC_000011.9:g.10325325C= , CM000673.1:g.10325325C= | GRCh37 |
| NC_000011.8:g.10281901C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000685217.1:n.386+714G= (SBF2) | |
| XM_011520536.1:c.309+273G= (ADM-DT) | XP_011518838.1:n.309+273G= |
| XR_001748472.2:n.1210G= (ADM-DT) |