Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4121153C>A , CM000682.2:g.4121153C>A | GRCh38 |
| NC_000020.10:g.4101800C>A , CM000682.1:g.4101800C>A | GRCh37 |
| NC_000020.9:g.4049800C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000493223.1:n.174C>A |