HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060812C>T , CM000681.2:g.49060812C>T | GRCh38 |
NC_000019.9:g.49564069C>T , CM000681.1:g.49564069C>T | GRCh37 |
NC_000019.8:g.54255881C>T | NCBI36 |
NG_016289.1:g.8056G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+943G>A | ENSP00000470689.1:n.243+943G>A | |
XM_011527575.1:c.-60G>A | XP_011525877.1:n.-60G>A | |
XR_001753693.1:n.879+352G>A | ||
XR_001753694.1:n.880-3G>A |