Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108269025C= , CM000675.2:g.108269025C= | GRCh38 |
| NC_000013.10:g.108921373C= , CM000675.1:g.108921373C= | GRCh37 |
| NC_000013.9:g.107719374C= | NCBI36 |
| NG_029524.1:g.4397C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000486502.1:n.78-1075C= | |
| XR_001749468.1:n.786C= |