Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62850180C>T , CM000672.2:g.62850180C>T | GRCh38 |
| NC_000010.10:g.64609940C>T , CM000672.1:g.64609940C>T | GRCh37 |
| NC_000010.9:g.64279946C>T | NCBI36 |
| NG_008936.2:g.74721G>A , LRG_239:g.74721G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000493899.2:n.542-34211G>A | |
| XM_011539428.1:c.-90-34211G>A | XP_011537730.1:n.-90-34211G>A |