HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49060774C>A , CM000681.2:g.49060774C>A | GRCh38 |
NC_000019.9:g.49564031C>A , CM000681.1:g.49564031C>A | GRCh37 |
NC_000019.8:g.54255843C>A | NCBI36 |
NG_016289.1:g.8094G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000599795.5:c.243+981G>T | ENSP00000470689.1:n.243+981G>T | |
XM_011527575.1:c.-22G>T | XP_011525877.1:n.-22G>T | |
XR_001753693.1:n.879+390G>T | ||
XR_001753694.1:n.915G>T |