Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31306664G>T , CM000668.2:g.31306664G>T | GRCh38 |
| NC_000006.11:g.31274441G>T , CM000668.1:g.31274441G>T | GRCh37 |
| NC_000006.10:g.31382420G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_926691.1:n.949+114C>A | ||
| XR_926691.2:n.965+114C>A |