Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15404243T= , CM000686.2:g.15404243T= | GRCh38 |
| NC_000024.9:g.17516123T= , CM000686.1:g.17516123T= | GRCh37 |
| NC_000024.8:g.16025517T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000421058.1:n.41-22401A= |