Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564789G>T , CM000682.2:g.35564789G>T | GRCh38 |
| NC_000020.10:g.34152705G>T , CM000682.1:g.34152705G>T | GRCh37 |
| NC_000020.9:g.33616119G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674340.1:n.2103C>A | ||
| ENST00000674470.1:n.1430C>A | ||
| ENST00000611673.4:n.1124C>A | ||
| ENST00000613061.4:n.1474C>A | ||
| ENST00000615531.4:n.4639C>A | ||
| ENST00000616711.4:n.1788C>A | ||
| ENST00000621044.4:n.752C>A | ||
| NR_119376.1:n.4651C>A |