Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93601745G>A , CM000672.2:g.93601745G>A | GRCh38 |
| NC_000010.10:g.95361502G>A , CM000672.1:g.95361502G>A | GRCh37 |
| NC_000010.9:g.95351492G>A | NCBI36 |
| NG_009104.1:g.4492C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000604414.1:c.697-2329G>A | ENSP00000474477.1:n.697-2329G>A |