HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060892T>G , CM000681.2:g.49060892T>G | GRCh38 |
NC_000019.9:g.49564149T>G , CM000681.1:g.49564149T>G | GRCh37 |
NC_000019.8:g.54255961T>G | NCBI36 |
NG_016289.1:g.7976A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+863A>C | ENSP00000470689.1:n.243+863A>C | |
XM_011527575.1:c.-140A>C | XP_011525877.1:n.-140A>C | |
XR_001753693.1:n.879+272A>C | ||
XR_001753694.1:n.880-83A>C |