HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060888T>C , CM000681.2:g.49060888T>C | GRCh38 |
NC_000019.9:g.49564145T>C , CM000681.1:g.49564145T>C | GRCh37 |
NC_000019.8:g.54255957T>C | NCBI36 |
NG_016289.1:g.7980A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+867A>G | ENSP00000470689.1:n.243+867A>G | |
XM_011527575.1:c.-136A>G | XP_011525877.1:n.-136A>G | |
XR_001753693.1:n.879+276A>G | ||
XR_001753694.1:n.880-79A>G |