Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27323142C= , CM000664.2:g.27323142C= | GRCh38 |
| NC_000002.11:g.27546009C= , CM000664.1:g.27546009C= | GRCh37 |
| NC_000002.10:g.27399513C= | NCBI36 |
| NG_008075.1:g.4423G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357186.10:c.18+1291G= | ENSP00000349713.6:n.18+1291G= | |
| XM_005264327.2:c.-220G= | XP_005264384.1:n.-220G= |