Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303745G>A , CM000675.2:g.48303745G>A | GRCh38 |
| NC_000013.10:g.48877881G>A , CM000675.1:g.48877881G>A | GRCh37 |
| NC_000013.9:g.47775882G>A | NCBI36 |
| NG_009009.1:g.4999G>A , LRG_517:g.4999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646097.1:c.-168G>A | ENSP00000496556.1:n.-168G>A |