Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117317256C= , CM000673.2:g.117317256C= | GRCh38 |
| NC_000011.9:g.117187972C= , CM000673.1:g.117187972C= | GRCh37 |
| NC_000011.8:g.116693182C= | NCBI36 |
| NG_029372.1:g.4001G= | |
| NG_033032.1:g.479C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525734.5:c.-98+2528C= | ENSP00000436609.1:n.-98+2528C= | |
| XM_017017364.1:c.-98+723C= | XP_016872853.1:n.-98+723C= |