Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94380322T>A , CM000669.2:g.94380322T>A | GRCh38 |
| NC_000007.13:g.94009634T>A , CM000669.1:g.94009634T>A | GRCh37 |
| NC_000007.12:g.93847570T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_147206.1:n.476A>T | |
| XR_927753.1:n.2325+11083A>T | |
| XR_927754.1:n.1683A>T | |
| XR_927755.1:n.2325+11083A>T |