Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.59419492C= , CM000677.2:g.59419492C= | GRCh38 |
| NC_000015.9:g.59711691C= , CM000677.1:g.59711691C= | GRCh37 |
| NC_000015.8:g.57498983C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000558348.5:c.-78+17134C= | ENSP00000453918.1:n.-78+17134C= |
| ENST00000560394.5:c.-78+17134C= | ENSP00000452962.1:n.-78+17134C= |
| XM_006720399.1:c.-78+17134C= | XP_006720462.1:n.-78+17134C= |
| XM_011521248.1:c.-22+17134C= | XP_011519550.1:n.-22+17134C= |
| XM_011521248.2:c.-22+17134C= | XP_011519550.1:n.-22+17134C= |