Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55478410T= , CM000678.2:g.55478410T= | GRCh38 |
| NC_000016.9:g.55512322T= , CM000678.1:g.55512322T= | GRCh37 |
| NC_000016.8:g.54069823T= | NCBI36 |
| NG_008989.1:g.4242T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570308.5:c.-75-4499T= | ENSP00000461421.1:n.-75-4499T= |