Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57230880C>T , CM000681.2:g.57230880C>T | GRCh38 |
| NC_000019.9:g.57742248C>T , CM000681.1:g.57742248C>T | GRCh37 |
| NC_000019.8:g.62434060C>T | NCBI36 |
| NG_012134.1:g.4872C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448930.5:c.-285C>T | ENSP00000406798.2:n.-285C>T | |
| XR_430209.2:n.521C>T | ||
| XR_430209.3:n.564C>T |