Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54151852T>C , CM000682.2:g.54151852T>C | GRCh38 |
| NC_000020.10:g.52768391T>C , CM000682.1:g.52768391T>C | GRCh37 |
| NC_000020.9:g.52201798T>C | NCBI36 |
| NG_008334.1:g.27126A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017027692.2:c.*10+5317A>G | XP_016883181.1:n.*10+5317A>G |