HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34095680G>T , CM000679.2:g.34095680G>T | GRCh38 |
NC_000017.10:g.32422699G>T , CM000679.1:g.32422699G>T | GRCh37 |
NC_000017.9:g.29446812G>T | NCBI36 |
NG_029763.1:g.66127C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000359872.6:c.555+60298C>A | ENSP00000352934.6:n.555+60298C>A | |
NM_001094.4:c.555+60298C>A | NP_001085.2:n.555+60298C>A | |
XR_001752835.1:n.673-1647C>A | ||
XR_002958157.1:n.643-1647C>A | ||
NM_001094.5:c.555+60298C>A | NP_001085.2:n.555+60298C>A |