Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15354425A= , CM000686.2:g.15354425A= | GRCh38 |
| NC_000024.9:g.17466305A= , CM000686.1:g.17466305A= | GRCh37 |
| NC_000024.8:g.15975699A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421058.1:n.291-5559T= | ||
| XR_001756089.1:n.87-5534T= |