Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.88645647C>T , CM000671.2:g.88645647C>T | GRCh38 |
| NC_000009.11:g.91260562C>T , CM000671.1:g.91260562C>T | GRCh37 |
| NC_000009.10:g.90450382C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_144626.1:n.940+1274G>A | |
| XR_428525.2:n.958+1274G>A | |
| XR_428525.3:n.961+1274G>A | |
| XR_929769.1:n.958+1274G>A | |
| XR_929770.1:n.958+1274G>A | |
| XR_929770.3:n.962+1274G>A | |
| XR_929771.1:n.959-1141G>A | |
| XR_929772.1:n.804+1274G>A | |
| XR_929773.1:n.764+1274G>A | |
| XR_929774.1:n.681+1274G>A |