| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8690928A>T , CM000686.2:g.8690928A>T | GRCh38 |
| NC_000024.9:g.8558969A>T , CM000686.1:g.8558969A>T | GRCh37 |
| NC_000024.8:g.8618969A>T | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000624593.1:c.-56-32238T>A | ENSP00000485106.1:n.-56-32238T>A |