Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564885C= , CM000682.2:g.35564885C= | GRCh38 |
| NC_000020.10:g.34152801C= , CM000682.1:g.34152801C= | GRCh37 |
| NC_000020.9:g.33616215C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674340.1:n.2007G= | ||
| ENST00000674470.1:n.1334G= | ||
| ENST00000611673.4:n.1028G= | ||
| ENST00000613061.4:n.1378G= | ||
| ENST00000615531.4:n.4543G= | ||
| ENST00000616711.4:n.1692G= | ||
| ENST00000621044.4:n.656G= | ||
| NR_119376.1:n.4555G= |