HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060872A>T , CM000681.2:g.49060872A>T | GRCh38 |
NC_000019.9:g.49564129A>T , CM000681.1:g.49564129A>T | GRCh37 |
NC_000019.8:g.54255941A>T | NCBI36 |
NG_016289.1:g.7996T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+883T>A | ENSP00000470689.1:n.243+883T>A | |
XM_011527575.1:c.-120T>A | XP_011525877.1:n.-120T>A | |
XR_001753693.1:n.879+292T>A | ||
XR_001753694.1:n.880-63T>A |