Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93601831C>G , CM000672.2:g.93601831C>G | GRCh38 |
| NC_000010.10:g.95361588C>G , CM000672.1:g.95361588C>G | GRCh37 |
| NC_000010.9:g.95351578C>G | NCBI36 |
| NG_009104.1:g.4406G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000604414.1:c.697-2243C>G | ENSP00000474477.1:n.697-2243C>G |