Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108267110A= , CM000675.2:g.108267110A= | GRCh38 |
| NC_000013.10:g.108919458A= , CM000675.1:g.108919458A= | GRCh37 |
| NC_000013.9:g.107717459A= | NCBI36 |
| NG_029524.1:g.2482A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486502.1:n.78-2990A= | ||
| XR_931715.1:n.1745A= |