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