Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34796933C>A , CM000677.2:g.34796933C>A | GRCh38 |
| NC_000015.9:g.35089134C>A , CM000677.1:g.35089134C>A | GRCh37 |
| NC_000015.8:g.32876426C>A | NCBI36 |
| NG_007553.1:g.3794G>T , LRG_388:g.3794G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_120329.1:n.300-13563C>A |