Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117317257A>T , CM000673.2:g.117317257A>T | GRCh38 |
| NC_000011.9:g.117187973A>T , CM000673.1:g.117187973A>T | GRCh37 |
| NC_000011.8:g.116693183A>T | NCBI36 |
| NG_029372.1:g.4000T>A | |
| NG_033032.1:g.480A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525734.5:c.-98+2529A>T | ENSP00000436609.1:n.-98+2529A>T | |
| XM_017017364.1:c.-98+724A>T | XP_016872853.1:n.-98+724A>T |