Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117317264A>C , CM000673.2:g.117317264A>C | GRCh38 |
| NC_000011.9:g.117187980A>C , CM000673.1:g.117187980A>C | GRCh37 |
| NC_000011.8:g.116693190A>C | NCBI36 |
| NG_029372.1:g.3993T>G | |
| NG_033032.1:g.487A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525734.5:c.-98+2536A>C | ENSP00000436609.1:n.-98+2536A>C | |
| XM_017017364.1:c.-98+731A>C | XP_016872853.1:n.-98+731A>C |