Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.84458231C= , CM000675.2:g.84458231C= | GRCh38 |
| NC_000013.10:g.85032366C= , CM000675.1:g.85032366C= | GRCh37 |
| NC_000013.9:g.83930367C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_046871.1:n.139-104133C= | ||
| XR_942133.1:n.369-46312G= | ||
| XR_942134.1:n.366-46312G= |