Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89820841G= , CM000678.2:g.89820841G= | GRCh38 |
| NC_000016.9:g.89887249G= , CM000678.1:g.89887249G= | GRCh37 |
| NC_000016.8:g.88414750G= | NCBI36 |
| NG_011706.1:g.817C= , LRG_495:g.817C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000564878.5:n.360+2303G= | |
| ENST00000565103.1:n.290-1392G= | |
| XM_011523379.1:c.85+2303G= | XP_011521681.1:n.85+2303G= |
| XM_011523379.2:c.85+2303G= | XP_011521681.1:n.85+2303G= |
| XM_011523381.1:c.-53+2303G= | XP_011521683.1:n.-53+2303G= |
| XM_011523381.2:c.-53+2303G= | XP_011521683.1:n.-53+2303G= |