Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90104839G>T , CM000677.2:g.90104839G>T | GRCh38 |
| NC_000015.9:g.90648071G>T , CM000677.1:g.90648071G>T | GRCh37 |
| NC_000015.8:g.88449075G>T | NCBI36 |
| NG_023302.1:g.2638C>A , LRG_611:g.2638C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932602.1:n.165+1387G>T | ||
| NR_149130.1:n.320+1387G>T |