Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216998541A>C , CM000664.2:g.216998541A>C | GRCh38 |
| NC_000002.11:g.217863264A>C , CM000664.1:g.217863264A>C | GRCh37 |
| NC_000002.10:g.217571509A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+4523A>C | ||
| XR_923883.1:n.294+4523A>C | ||
| XR_923885.1:n.862+4523A>C | ||
| XR_923886.1:n.300-2506A>C | ||
| XR_923887.1:n.299+4523A>C | ||
| XR_001739169.1:n.11844+4523A>C | ||
| XR_001739170.2:n.8480+4523A>C | ||
| XR_001739171.2:n.8347+4523A>C |