Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129465515C>A , CM000670.2:g.129465515C>A | GRCh38 |
| NC_000008.10:g.130477761C>A , CM000670.1:g.130477761C>A | GRCh37 |
| NC_000008.9:g.130546943C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.360+15128G>T | ||
| NR_130918.1:n.138-95138G>T | ||
| NR_130919.1:n.138-65831G>T | ||
| NR_130920.1:n.138-65831G>T |