Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564882C>A , CM000682.2:g.35564882C>A | GRCh38 |
| NC_000020.10:g.34152798C>A , CM000682.1:g.34152798C>A | GRCh37 |
| NC_000020.9:g.33616212C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674340.1:n.2010G>T | ||
| ENST00000674470.1:n.1337G>T | ||
| ENST00000611673.4:n.1031G>T | ||
| ENST00000613061.4:n.1381G>T | ||
| ENST00000615531.4:n.4546G>T | ||
| ENST00000616711.4:n.1695G>T | ||
| ENST00000621044.4:n.659G>T | ||
| NR_119376.1:n.4558G>T |