Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15949317C>A , CM000678.2:g.15949317C>A | GRCh38 |
| NC_000016.9:g.16043174C>A , CM000678.1:g.16043174C>A | GRCh37 |
| NC_000016.8:g.15950675C>A | NCBI36 |
| NG_028268.1:g.4741C>A | |
| NG_028268.2:g.4741C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000574224.2:n.123+57C>A | |
| XR_001752339.1:n.68G>T |