Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34796504A>T , CM000677.2:g.34796504A>T | GRCh38 |
| NC_000015.9:g.35088705A>T , CM000677.1:g.35088705A>T | GRCh37 |
| NC_000015.8:g.32875997A>T | NCBI36 |
| NG_007553.1:g.4223T>A , LRG_388:g.4223T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120329.1:n.300-13992A>T |