Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62820815C= , CM000672.2:g.62820815C= | GRCh38 |
| NC_000010.10:g.64580575C= , CM000672.1:g.64580575C= | GRCh37 |
| NC_000010.9:g.64250581C= | NCBI36 |
| NG_008936.2:g.104086G= , LRG_239:g.104086G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493899.2:n.542-4846G= | ||
| XM_011539428.1:c.-90-4846G= | XP_011537730.1:n.-90-4846G= |