Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575983G>T , CM000663.2:g.179575983G>T | GRCh38 |
| NC_000001.10:g.179545118G>T , CM000663.1:g.179545118G>T | GRCh37 |
| NC_000001.9:g.177811741G>T | NCBI36 |
| NG_007535.1:g.4967C>A , LRG_887:g.4967C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017002299.1:c.-119C>A | XP_016857788.1:n.-119C>A |