Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108267055T>C , CM000675.2:g.108267055T>C | GRCh38 |
| NC_000013.10:g.108919403T>C , CM000675.1:g.108919403T>C | GRCh37 |
| NC_000013.9:g.107717404T>C | NCBI36 |
| NG_029524.1:g.2427T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000486502.1:n.78-3045T>C | |
| XR_931715.1:n.1690T>C |