HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060685G>T , CM000681.2:g.49060685G>T | GRCh38 |
NC_000019.9:g.49563942G>T , CM000681.1:g.49563942G>T | GRCh37 |
NC_000019.8:g.54255754G>T | NCBI36 |
NG_016289.1:g.8183C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000599795.5:c.243+1070C>A | ENSP00000470689.1:n.243+1070C>A | |
XM_011527575.1:c.40+28C>A | XP_011525877.1:n.40+28C>A | |
XR_001753693.1:n.879+479C>A |