Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26475396A>G , CM000677.2:g.26475396A>G | GRCh38 |
| NC_000015.9:g.26720543A>G , CM000677.1:g.26720543A>G | GRCh37 |
| NC_000015.8:g.24271636A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001751453.1:n.2717-14116A>G | |
| XR_001751456.1:n.418+2325T>C | |
| XR_001751457.1:n.418+2325T>C | |
| XR_001751458.1:n.418+2325T>C | |
| XR_001751459.1:n.418+2325T>C | |
| XR_932009.1:n.185+2325T>C | |
| XR_932010.1:n.185+2325T>C |