Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.9286688C>A , CM000672.2:g.9286688C>A | GRCh38 |
| NC_000010.10:g.9328651C>A , CM000672.1:g.9328651C>A | GRCh37 |
| NC_000010.9:g.9368657C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_108039.1:n.345C>A | |
| NR_120635.1:n.193-2299G>T |