Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.126919857G>A , CM000674.2:g.126919857G>A | GRCh38 |
| NC_000012.11:g.127404403G>A , CM000674.1:g.127404403G>A | GRCh37 |
| NC_000012.10:g.125970356G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_104646.1:n.1114+2850C>T |