HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060856T>A , CM000681.2:g.49060856T>A | GRCh38 |
NC_000019.9:g.49564113T>A , CM000681.1:g.49564113T>A | GRCh37 |
NC_000019.8:g.54255925T>A | NCBI36 |
NG_016289.1:g.8012A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+899A>T | ENSP00000470689.1:n.243+899A>T | |
XM_011527575.1:c.-104A>T | XP_011525877.1:n.-104A>T | |
XR_001753693.1:n.879+308A>T | ||
XR_001753694.1:n.880-47A>T |