HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060777G>C , CM000681.2:g.49060777G>C | GRCh38 |
NC_000019.9:g.49564034G>C , CM000681.1:g.49564034G>C | GRCh37 |
NC_000019.8:g.54255846G>C | NCBI36 |
NG_016289.1:g.8091C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000599795.5:c.243+978C>G | ENSP00000470689.1:n.243+978C>G | |
XM_011527575.1:c.-25C>G | XP_011525877.1:n.-25C>G | |
XR_001753693.1:n.879+387C>G | ||
XR_001753694.1:n.912C>G |