Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55989494C= , CM000681.2:g.55989494C= | GRCh38 |
| NC_000019.9:g.56500860C= , CM000681.1:g.56500860C= | GRCh37 |
| NC_000019.8:g.61192672C= | NCBI36 |
| NG_046924.1:g.7712C= | |
| NG_051553.1:g.46663C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011526444.1:c.-72+2673C= | XP_011524746.1:n.-72+2673C= |