Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117317311C>T , CM000673.2:g.117317311C>T | GRCh38 |
| NC_000011.9:g.117188027C>T , CM000673.1:g.117188027C>T | GRCh37 |
| NC_000011.8:g.116693237C>T | NCBI36 |
| NG_029372.1:g.3946G>A | |
| NG_033032.1:g.534C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525734.5:c.-98+2583C>T | ENSP00000436609.1:n.-98+2583C>T | |
| XM_017017364.1:c.-98+778C>T | XP_016872853.1:n.-98+778C>T |