Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55478141G>C , CM000678.2:g.55478141G>C | GRCh38 |
| NC_000016.9:g.55512053G>C , CM000678.1:g.55512053G>C | GRCh37 |
| NC_000016.8:g.54069554G>C | NCBI36 |
| NG_008989.1:g.3973G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000570308.5:c.-75-4768G>C | ENSP00000461421.1:n.-75-4768G>C |