HGVS | Genome Assembly |
---|---|
NC_000023.11:g.106940242C>G , CM000685.2:g.106940242C>G | GRCh38 |
NC_000023.10:g.106183472C>G , CM000685.1:g.106183472C>G | GRCh37 |
NC_000023.9:g.106070128C>G | NCBI36 |
NG_016392.1:g.65003G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000604604.1:c.111+52988G>C |