Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125527876G>T , CM000670.2:g.125527876G>T | GRCh38 |
| NC_000008.10:g.126540118G>T , CM000670.1:g.126540118G>T | GRCh37 |
| NC_000008.9:g.126609300G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928628.1:n.256+54562G>T | ||
| XR_001746072.1:n.583+4863G>T | ||
| XR_001746073.1:n.583+4863G>T |