Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31298313G>A , CM000668.2:g.31298313G>A | GRCh38 |
| NC_000006.11:g.31266090G>A , CM000668.1:g.31266090G>A | GRCh37 |
| NC_000006.10:g.31374069G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_149115.1:n.166+3159C>T | |
| XR_926691.1:n.1309C>T | |
| XR_926691.2:n.1325C>T |