Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62850958T>C , CM000672.2:g.62850958T>C | GRCh38 |
| NC_000010.10:g.64610718T>C , CM000672.1:g.64610718T>C | GRCh37 |
| NC_000010.9:g.64280724T>C | NCBI36 |
| NG_008936.2:g.73943A>G , LRG_239:g.73943A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000493899.2:n.542-34989A>G | |
| XM_011539428.1:c.-90-34989A>G | XP_011537730.1:n.-90-34989A>G |