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