Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49060897G= , CM000681.2:g.49060897G= | GRCh38 |
| NC_000019.9:g.49564154G= , CM000681.1:g.49564154G= | GRCh37 |
| NC_000019.8:g.54255966G= | NCBI36 |
| NG_016289.1:g.7971C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599795.5:c.243+858C= | ENSP00000470689.1:n.243+858C= | |
| XM_011527575.1:c.-145C= | XP_011525877.1:n.-145C= | |
| XR_001753693.1:n.879+267C= | ||
| XR_001753694.1:n.880-88C= |