HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44386182C>G , CM000672.2:g.44386182C>G | GRCh38 |
NC_000010.10:g.44881630C>G , CM000672.1:g.44881630C>G | GRCh37 |
NC_000010.9:g.44201636C>G | NCBI36 |
NG_016861.1:g.3916G>C | |
NG_016861.2:g.3916G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496375.1:n.312G>C |