Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55477625G>A , CM000678.2:g.55477625G>A | GRCh38 |
| NC_000016.9:g.55511537G>A , CM000678.1:g.55511537G>A | GRCh37 |
| NC_000016.8:g.54069038G>A | NCBI36 |
| NG_008989.1:g.3457G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570308.5:c.-75-5284G>A | ENSP00000461421.1:n.-75-5284G>A |