Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108267141C= , CM000675.2:g.108267141C= | GRCh38 |
| NC_000013.10:g.108919489C= , CM000675.1:g.108919489C= | GRCh37 |
| NC_000013.9:g.107717490C= | NCBI36 |
| NG_029524.1:g.2513C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486502.1:n.78-2959C= | ||
| XR_931715.1:n.1776C= |