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