Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48700671T>C , CM000677.2:g.48700671T>C | GRCh38 |
| NC_000015.9:g.48992868T>C , CM000677.1:g.48992868T>C | GRCh37 |
| NC_000015.8:g.46780160T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931770.1:n.5210+16347A>G | ||
| XR_931771.1:n.5210+16347A>G | ||
| XR_931772.1:n.5210+16347A>G | ||
| XR_931773.1:n.5210+16347A>G | ||
| XR_931775.1:n.5180+16347A>G | ||
| XR_001751153.2:n.5295+16347A>G | ||
| XR_931770.3:n.5196+16347A>G | ||
| XR_931775.3:n.5166+16347A>G |