Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117317252C= , CM000673.2:g.117317252C= | GRCh38 |
| NC_000011.9:g.117187968C= , CM000673.1:g.117187968C= | GRCh37 |
| NC_000011.8:g.116693178C= | NCBI36 |
| NG_029372.1:g.4005G= | |
| NG_033032.1:g.475C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525734.5:c.-98+2524C= | ENSP00000436609.1:n.-98+2524C= | |
| XM_017017364.1:c.-98+719C= | XP_016872853.1:n.-98+719C= |