Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49060823A= , CM000681.2:g.49060823A= | GRCh38 |
| NC_000019.9:g.49564080A= , CM000681.1:g.49564080A= | GRCh37 |
| NC_000019.8:g.54255892A= | NCBI36 |
| NG_016289.1:g.8045T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599795.5:c.243+932T= | ENSP00000470689.1:n.243+932T= | |
| XM_011527575.1:c.-71T= | XP_011525877.1:n.-71T= | |
| XR_001753693.1:n.879+341T= | ||
| XR_001753694.1:n.880-14T= |