Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73811574T>G , CM000679.2:g.73811574T>G | GRCh38 |
| NC_000017.10:g.71807713T>G , CM000679.1:g.71807713T>G | GRCh37 |
| NC_000017.9:g.69319308T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_027146.1:n.228+12114A>C |