Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15352317C>A , CM000686.2:g.15352317C>A | GRCh38 |
| NC_000024.9:g.17464197C>A , CM000686.1:g.17464197C>A | GRCh37 |
| NC_000024.8:g.15973591C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421058.1:n.291-3451G>T | ||
| XR_001756089.1:n.87-3426G>T |