Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.75090201G>T , CM000677.2:g.75090201G>T | GRCh38 |
| NC_000015.9:g.75382542G>T , CM000677.1:g.75382542G>T | GRCh37 |
| NC_000015.8:g.73169595G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000563298.1:n.134-26919G>T |