Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40223890G= , CM000674.2:g.40223890G= | GRCh38 |
| NC_000012.11:g.40617692G= , CM000674.1:g.40617692G= | GRCh37 |
| NC_000012.10:g.38903959G= | NCBI36 |
| NG_011709.1:g.3880G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000416796.5:c.-62-1665G= | ENSP00000398726.1:n.-62-1665G= |