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