HGVS | Genome Assembly |
---|---|
NC_000002.12:g.233250339T>A , CM000664.2:g.233250339T>A | GRCh38 |
NC_000002.11:g.234158985T>A , CM000664.1:g.234158985T>A | GRCh37 |
NC_000002.10:g.233823724T>A | NCBI36 |
NG_023038.1:g.3769T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000431917.5:c.-137-5763T>A | ENSP00000397512.1:n.-137-5763T>A |