Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93601757C>G , CM000672.2:g.93601757C>G | GRCh38 |
| NC_000010.10:g.95361514C>G , CM000672.1:g.95361514C>G | GRCh37 |
| NC_000010.9:g.95351504C>G | NCBI36 |
| NG_009104.1:g.4480G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000604414.1:c.697-2317C>G | ENSP00000474477.1:n.697-2317C>G |