Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152601C>A , CM000677.2:g.80152601C>A | GRCh38 |
| NC_000015.9:g.80444943C>A , CM000677.1:g.80444943C>A | GRCh37 |
| NC_000015.8:g.78231998C>A | NCBI36 |
| NG_012833.1:g.4603C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+56C>A | ENSP00000453152.1:n.-30+56C>A |