Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49060856T= , CM000681.2:g.49060856T= | GRCh38 |
| NC_000019.9:g.49564113T= , CM000681.1:g.49564113T= | GRCh37 |
| NC_000019.8:g.54255925T= | NCBI36 |
| NG_016289.1:g.8012A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599795.5:c.243+899A= | ENSP00000470689.1:n.243+899A= | |
| XM_011527575.1:c.-104A= | XP_011525877.1:n.-104A= | |
| XR_001753693.1:n.879+308A= | ||
| XR_001753694.1:n.880-47A= |