HGVS | Genome Assembly |
---|---|
NC_000002.12:g.217445617C>G , CM000664.2:g.217445617C>G | GRCh38 |
NC_000002.11:g.218310340C>G , CM000664.1:g.218310340C>G | GRCh37 |
NC_000002.10:g.218018585C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000474063.5:n.500-11501G>C | ||
ENST00000486365.5:n.1523-11501G>C | ||
NR_026597.1:n.1523-11501G>C | ||
NR_026597.2:n.1523-11501G>C |