Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.62036881G>A , CM000678.2:g.62036881G>A | GRCh38 |
| NC_000016.9:g.62070785G>A , CM000678.1:g.62070785G>A | GRCh37 |
| NC_000016.8:g.60628286G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000584506.1:c.-200+39C>T | ENSP00000462847.1:n.-200+39C>T |
| XM_005255759.2:c.-200+39C>T | XP_005255816.1:n.-200+39C>T |