Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55989479C= , CM000681.2:g.55989479C= | GRCh38 |
| NC_000019.9:g.56500845C= , CM000681.1:g.56500845C= | GRCh37 |
| NC_000019.8:g.61192657C= | NCBI36 |
| NG_046924.1:g.7697C= | |
| NG_051553.1:g.46648C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011526444.1:c.-72+2658C= | XP_011524746.1:n.-72+2658C= |