Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117317249G= , CM000673.2:g.117317249G= | GRCh38 |
| NC_000011.9:g.117187965G= , CM000673.1:g.117187965G= | GRCh37 |
| NC_000011.8:g.116693175G= | NCBI36 |
| NG_029372.1:g.4008C= | |
| NG_033032.1:g.472G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525734.5:c.-98+2521G= | ENSP00000436609.1:n.-98+2521G= | |
| XM_017017364.1:c.-98+716G= | XP_016872853.1:n.-98+716G= |