Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19066916G>A , CM000669.2:g.19066916G>A | GRCh38 |
| NC_000007.13:g.19106539G>A , CM000669.1:g.19106539G>A | GRCh37 |
| NC_000007.12:g.19073064G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000443687.5:c.302-10751C>T | |
| XR_927080.1:n.150-10751C>T |