HGVS | Genome Assembly |
---|---|
NC_000015.10:g.44711472G>A , CM000677.2:g.44711472G>A | GRCh38 |
NC_000015.9:g.45003670G>A , CM000677.1:g.45003670G>A | GRCh37 |
NC_000015.8:g.42790962G>A | NCBI36 |
NG_012920.1:g.4986G>A | |
NG_012920.2:g.4996G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695792.1:n.83+32G>A |