Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27748474T>A , CM000679.2:g.27748474T>A | GRCh38 |
| NC_000017.10:g.26075500T>A , CM000679.1:g.26075500T>A | GRCh37 |
| NC_000017.9:g.23099627T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580112.1:n.317+146T>A |