Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152762C>G , CM000677.2:g.80152762C>G | GRCh38 |
| NC_000015.9:g.80445104C>G , CM000677.1:g.80445104C>G | GRCh37 |
| NC_000015.8:g.78232159C>G | NCBI36 |
| NG_012833.1:g.4764C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+217C>G | ENSP00000453152.1:n.-30+217C>G |