Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50376267C= , CM000681.2:g.50376267C= | GRCh38 |
| NC_000019.9:g.50879524C= , CM000681.1:g.50879524C= | GRCh37 |
| NC_000019.8:g.55571336C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000593532.5:c.-437C= | ENSP00000472271.1:n.-437C= |
| ENST00000600355.5:c.-127-452C= | ENSP00000473099.1:n.-127-452C= |
| ENST00000652203.1:c.-127-452C= | ENSP00000499121.1:n.-127-452C= |