Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49060818A>C , CM000681.2:g.49060818A>C | GRCh38 |
| NC_000019.9:g.49564075A>C , CM000681.1:g.49564075A>C | GRCh37 |
| NC_000019.8:g.54255887A>C | NCBI36 |
| NG_016289.1:g.8050T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599795.5:c.243+937T>G | ENSP00000470689.1:n.243+937T>G | |
| XM_011527575.1:c.-66T>G | XP_011525877.1:n.-66T>G | |
| XR_001753693.1:n.879+346T>G | ||
| XR_001753694.1:n.880-9T>G |