Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.112319108G= , CM000672.2:g.112319108G= | GRCh38 |
| NC_000010.10:g.114078866G= , CM000672.1:g.114078866G= | GRCh37 |
| NC_000010.9:g.114068856G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479705.5:n.2245-1052C= | ||
| ENST00000490269.1:n.461-1052C= | ||
| NR_028134.1:n.1994-1052C= |