Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31306603T>G , CM000668.2:g.31306603T>G | GRCh38 |
| NC_000006.11:g.31274380T>G , CM000668.1:g.31274380T>G | GRCh37 |
| NC_000006.10:g.31382359T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_926691.1:n.949+175A>C | ||
| XR_926691.2:n.965+175A>C |