Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.65051747G>A , CM000667.2:g.65051747G>A | GRCh38 |
| NC_000005.9:g.64347574G>A , CM000667.1:g.64347574G>A | GRCh37 |
| NC_000005.8:g.64383330G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000693303.1:c.1153-47505G>A | ENSP00000508557.1:n.1153-47505G>A |