Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108267103C= , CM000675.2:g.108267103C= | GRCh38 |
| NC_000013.10:g.108919451C= , CM000675.1:g.108919451C= | GRCh37 |
| NC_000013.9:g.107717452C= | NCBI36 |
| NG_029524.1:g.2475C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486502.1:n.78-2997C= | ||
| XR_931715.1:n.1738C= |