Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152592C>G , CM000677.2:g.80152592C>G | GRCh38 |
| NC_000015.9:g.80444934C>G , CM000677.1:g.80444934C>G | GRCh37 |
| NC_000015.8:g.78231989C>G | NCBI36 |
| NG_012833.1:g.4594C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+47C>G | ENSP00000453152.1:n.-30+47C>G |