Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564889G>A , CM000682.2:g.35564889G>A | GRCh38 |
| NC_000020.10:g.34152805G>A , CM000682.1:g.34152805G>A | GRCh37 |
| NC_000020.9:g.33616219G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674340.1:n.2003C>T | ||
| ENST00000674470.1:n.1330C>T | ||
| ENST00000611673.4:n.1024C>T | ||
| ENST00000613061.4:n.1374C>T | ||
| ENST00000615531.4:n.4539C>T | ||
| ENST00000616711.4:n.1688C>T | ||
| ENST00000621044.4:n.652C>T | ||
| NR_119376.1:n.4551C>T |