Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125527760T= , CM000670.2:g.125527760T= | GRCh38 |
| NC_000008.10:g.126540002T= , CM000670.1:g.126540002T= | GRCh37 |
| NC_000008.9:g.126609184T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_928628.1:n.256+54446T= | ||
| XR_001746072.1:n.583+4747T= | ||
| XR_001746073.1:n.583+4747T= |