Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185254178C= , CM000665.2:g.185254178C= | GRCh38 |
| NC_000003.11:g.184971966C= , CM000665.1:g.184971966C= | GRCh37 |
| NC_000003.10:g.186454660C= | NCBI36 |
| NG_015999.1:g.4921G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465178.1:n.228-5661G= | ||
| XM_011512517.1:c.-214-5661G= | XP_011510819.1:n.-214-5661G= |