HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868700G>T , CM000664.2:g.240868700G>T | GRCh38 |
NC_000002.11:g.241808117G>T , CM000664.1:g.241808117G>T | GRCh37 |
NC_000002.10:g.241456790G>T | NCBI36 |
NG_008005.1:g.4956G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.3:c.-166G>T | ENSP00000302620.3:n.-166G>T | |
XR_924060.1:n.405+1533C>A |