Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55989574G= , CM000681.2:g.55989574G= | GRCh38 |
| NC_000019.9:g.56500940G= , CM000681.1:g.56500940G= | GRCh37 |
| NC_000019.8:g.61192752G= | NCBI36 |
| NG_046924.1:g.7792G= | |
| NG_051553.1:g.46743G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011526444.1:c.-72+2753G= | XP_011524746.1:n.-72+2753G= |