Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34797231G>A , CM000677.2:g.34797231G>A | GRCh38 |
| NC_000015.9:g.35089432G>A , CM000677.1:g.35089432G>A | GRCh37 |
| NC_000015.8:g.32876724G>A | NCBI36 |
| NG_007553.1:g.3496C>T , LRG_388:g.3496C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_120329.1:n.300-13265G>A |