Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35281996A= , CM000681.2:g.35281996A= | GRCh38 |
| NC_000019.9:g.35772899A= , CM000681.1:g.35772899A= | GRCh37 |
| NC_000019.8:g.40464739A= | NCBI36 |
| NG_011563.1:g.4490A= | |
| NG_011563.2:g.4490A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000598398.5:c.-84-498A= | ENSP00000471894.1:n.-84-498A= |