Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117317407C= , CM000673.2:g.117317407C= | GRCh38 |
| NC_000011.9:g.117188123C= , CM000673.1:g.117188123C= | GRCh37 |
| NC_000011.8:g.116693333C= | NCBI36 |
| NG_029372.1:g.3850G= | |
| NG_033032.1:g.630C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525734.5:c.-98+2679C= | ENSP00000436609.1:n.-98+2679C= | |
| XM_017017364.1:c.-98+874C= | XP_016872853.1:n.-98+874C= |