Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216998587C= , CM000664.2:g.216998587C= | GRCh38 |
| NC_000002.11:g.217863310C= , CM000664.1:g.217863310C= | GRCh37 |
| NC_000002.10:g.217571555C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+4569C= | ||
| XR_923883.1:n.294+4569C= | ||
| XR_923885.1:n.862+4569C= | ||
| XR_923886.1:n.300-2460C= | ||
| XR_923887.1:n.299+4569C= | ||
| XR_001739169.1:n.11844+4569C= | ||
| XR_001739170.2:n.8480+4569C= | ||
| XR_001739171.2:n.8347+4569C= |