HGVS | Genome Assembly |
---|---|
NC_000015.10:g.44711465C>A , CM000677.2:g.44711465C>A | GRCh38 |
NC_000015.9:g.45003663C>A , CM000677.1:g.45003663C>A | GRCh37 |
NC_000015.8:g.42790955C>A | NCBI36 |
NG_012920.1:g.4979C>A | |
NG_012920.2:g.4989C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695792.1:n.83+25C>A |