Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34796519G>A , CM000677.2:g.34796519G>A | GRCh38 |
| NC_000015.9:g.35088720G>A , CM000677.1:g.35088720G>A | GRCh37 |
| NC_000015.8:g.32876012G>A | NCBI36 |
| NG_007553.1:g.4208C>T , LRG_388:g.4208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120329.1:n.300-13977G>A |