Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117317214G>T , CM000673.2:g.117317214G>T | GRCh38 |
| NC_000011.9:g.117187930G>T , CM000673.1:g.117187930G>T | GRCh37 |
| NC_000011.8:g.116693140G>T | NCBI36 |
| NG_029372.1:g.4043C>A | |
| NG_033032.1:g.437G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525734.5:c.-98+2486G>T | ENSP00000436609.1:n.-98+2486G>T | |
| XM_017017364.1:c.-98+681G>T | XP_016872853.1:n.-98+681G>T |