Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57116878C= , CM000674.2:g.57116878C= | GRCh38 |
| NC_000012.11:g.57510661C= , CM000674.1:g.57510661C= | GRCh37 |
| NC_000012.10:g.55796928C= | NCBI36 |
| NG_021272.2:g.20262G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000553499.5:c.-21-8579G= | ENSP00000451074.1:n.-21-8579G= |
| ENST00000556155.5:c.-21-8579G= | ENSP00000451742.1:n.-21-8579G= |