Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26773790G>C , CM000677.2:g.26773790G>C | GRCh38 |
| NC_000015.9:g.27018937G>C , CM000677.1:g.27018937G>C | GRCh37 |
| NC_000015.8:g.24570030G>C | NCBI36 |
| NG_012836.1:g.4991C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000541819.6:c.249-1018C>G | ENSP00000442408.2:n.249-1018C>G |
| ENST00000557641.5:n.453-1018C>G | |
| ENST00000638099.1:c.-20+153C>G | ENSP00000490678.1:n.-20+153C>G |