HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44385986C>G , CM000672.2:g.44385986C>G | GRCh38 |
NC_000010.10:g.44881434C>G , CM000672.1:g.44881434C>G | GRCh37 |
NC_000010.9:g.44201440C>G | NCBI36 |
NG_016861.1:g.4112G>C | |
NG_016861.2:g.4112G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496375.1:n.508G>C |