Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38051491G>A , CM000667.2:g.38051491G>A | GRCh38 |
| NC_000005.9:g.38051593G>A , CM000667.1:g.38051593G>A | GRCh37 |
| NC_000005.8:g.38087350G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147009.1:n.233+22435G>A | |
| XR_925929.1:n.468+10200G>A | |
| XR_925930.1:n.310+22435G>A |