Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13488772C>G , CM000674.2:g.13488772C>G | GRCh38 |
| NC_000012.11:g.13641706C>G , CM000674.1:g.13641706C>G | GRCh37 |
| NC_000012.10:g.13532973C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000637214.1:c.70-50761G>C | ENSP00000489997.1:n.70-50761G>C |