Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15358232A>G , CM000686.2:g.15358232A>G | GRCh38 |
| NC_000024.9:g.17470112A>G , CM000686.1:g.17470112A>G | GRCh37 |
| NC_000024.8:g.15979506A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000421058.1:n.291-9366T>C | |
| XR_001756089.1:n.86+6818T>C |