Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564880T>C , CM000682.2:g.35564880T>C | GRCh38 |
| NC_000020.10:g.34152796T>C , CM000682.1:g.34152796T>C | GRCh37 |
| NC_000020.9:g.33616210T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674340.1:n.2012A>G | ||
| ENST00000674470.1:n.1339A>G | ||
| ENST00000611673.4:n.1033A>G | ||
| ENST00000613061.4:n.1383A>G | ||
| ENST00000615531.4:n.4548A>G | ||
| ENST00000616711.4:n.1697A>G | ||
| ENST00000621044.4:n.661A>G | ||
| NR_119376.1:n.4560A>G |