Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14069480G= , CM000679.2:g.14069480G= | GRCh38 |
| NC_000017.10:g.13972797G= , CM000679.1:g.13972797G= | GRCh37 |
| NC_000017.9:g.13913522G= | NCBI36 |
| NG_008034.1:g.5079G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001303.3:c.-126G= | NP_001294.2:n.-126G= |