Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111618282C>A , CM000664.2:g.111618282C>A | GRCh38 |
| NC_000002.11:g.112375859C>A , CM000664.1:g.112375859C>A | GRCh37 |
| NC_000002.10:g.112092330C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643447.1:c.920-3672G>T | ENSP00000494863.1:n.920-3672G>T | |
| XR_001739641.1:n.1546G>T |