Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564930G= , CM000682.2:g.35564930G= | GRCh38 |
| NC_000020.10:g.34152846G= , CM000682.1:g.34152846G= | GRCh37 |
| NC_000020.9:g.33616260G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674340.1:n.1974-12C= | ||
| ENST00000674470.1:n.1301-12C= | ||
| ENST00000611673.4:n.995-12C= | ||
| ENST00000613061.4:n.1345-12C= | ||
| ENST00000615531.4:n.4510-12C= | ||
| ENST00000616711.4:n.1659-12C= | ||
| ENST00000621044.4:n.623-12C= | ||
| NR_119376.1:n.4522-12C= |