Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133492654C= , CM000672.2:g.133492654C= | GRCh38 |
| NC_000010.10:g.135306158C= , CM000672.1:g.135306158C= | GRCh37 |
| NC_000010.9:g.135156148C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488261.6:n.4041-633C= | ||
| XR_946512.1:n.305G= | ||
| XR_946512.2:n.305G= |