Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564778G>A , CM000682.2:g.35564778G>A | GRCh38 |
| NC_000020.10:g.34152694G>A , CM000682.1:g.34152694G>A | GRCh37 |
| NC_000020.9:g.33616108G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674340.1:n.2114C>T | ||
| ENST00000674470.1:n.1441C>T | ||
| ENST00000611673.4:n.1135C>T | ||
| ENST00000613061.4:n.1485C>T | ||
| ENST00000615531.4:n.4650C>T | ||
| ENST00000616711.4:n.1799C>T | ||
| ENST00000621044.4:n.763C>T | ||
| NR_119376.1:n.4662C>T |