HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060727C>G , CM000681.2:g.49060727C>G | GRCh38 |
NC_000019.9:g.49563984C>G , CM000681.1:g.49563984C>G | GRCh37 |
NC_000019.8:g.54255796C>G | NCBI36 |
NG_016289.1:g.8141G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+1028G>C | ENSP00000470689.1:n.243+1028G>C | |
XM_011527575.1:c.26G>C | XP_011525877.1:p.Arg9Thr | |
XR_001753693.1:n.879+437G>C | ||
XR_001753694.1:n.962G>C |