Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22468544A>G , CM000676.2:g.22468544A>G | GRCh38 |
| NC_000014.8:g.22937536A>G , CM000676.1:g.22937536A>G | GRCh37 |
| NC_000014.7:g.22007376A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943593.1:n.776-3258T>C | ||
| XR_943594.1:n.541-3258T>C | ||
| XR_943595.1:n.541-3258T>C | ||
| XR_943596.1:n.776-3258T>C | ||
| NR_148361.1:n.225+12697T>C | ||
| XR_001750629.1:n.292-3258T>C |