Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50140297G>A , CM000677.2:g.50140297G>A | GRCh38 |
| NC_000015.9:g.50432494G>A , CM000677.1:g.50432494G>A | GRCh37 |
| NC_000015.8:g.48219786G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000558829.1:c.-42-33289C>T | ENSP00000453539.1:n.-42-33289C>T |
| XM_011522056.1:c.-42-33289C>T | XP_011520358.1:n.-42-33289C>T |
| XM_011522056.3:c.-42-33289C>T | XP_011520358.3:n.-42-33289C>T |
| XM_017022587.2:c.-42-33289C>T | XP_016878076.2:n.-42-33289C>T |