Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96287369C= , CM000677.2:g.96287369C= | GRCh38 |
| NC_000015.9:g.96830598C= , CM000677.1:g.96830598C= | GRCh37 |
| NC_000015.8:g.94631602C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_102743.1:n.409+1295G= | ||
| NR_125738.1:n.317+3261G= |