HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240868716G>C , CM000664.2:g.240868716G>C | GRCh38 |
NC_000002.11:g.241808133G>C , CM000664.1:g.241808133G>C | GRCh37 |
NC_000002.10:g.241456806G>C | NCBI36 |
NG_008005.1:g.4972G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.3:c.-150G>C | ENSP00000302620.3:n.-150G>C | |
XR_924060.1:n.405+1517C>G |