HGVS | Genome Assembly |
---|---|
NC_000002.12:g.217445636G>A , CM000664.2:g.217445636G>A | GRCh38 |
NC_000002.11:g.218310359G>A , CM000664.1:g.218310359G>A | GRCh37 |
NC_000002.10:g.218018604G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000474063.5:n.500-11520C>T | ||
ENST00000486365.5:n.1523-11520C>T | ||
NR_026597.1:n.1523-11520C>T | ||
NR_026597.2:n.1523-11520C>T |