HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060776T>A , CM000681.2:g.49060776T>A | GRCh38 |
NC_000019.9:g.49564033T>A , CM000681.1:g.49564033T>A | GRCh37 |
NC_000019.8:g.54255845T>A | NCBI36 |
NG_016289.1:g.8092A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000599795.5:c.243+979A>T | ENSP00000470689.1:n.243+979A>T | |
XM_011527575.1:c.-24A>T | XP_011525877.1:n.-24A>T | |
XR_001753693.1:n.879+388A>T | ||
XR_001753694.1:n.913A>T |