Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117317301C>A , CM000673.2:g.117317301C>A | GRCh38 |
| NC_000011.9:g.117188017C>A , CM000673.1:g.117188017C>A | GRCh37 |
| NC_000011.8:g.116693227C>A | NCBI36 |
| NG_029372.1:g.3956G>T | |
| NG_033032.1:g.524C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525734.5:c.-98+2573C>A | ENSP00000436609.1:n.-98+2573C>A | |
| XM_017017364.1:c.-98+768C>A | XP_016872853.1:n.-98+768C>A |