HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44386390A>G , CM000672.2:g.44386390A>G | GRCh38 |
NC_000010.10:g.44881838A>G , CM000672.1:g.44881838A>G | GRCh37 |
NC_000010.9:g.44201844A>G | NCBI36 |
NG_016861.1:g.3708T>C | |
NG_016861.2:g.3708T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496375.1:n.104T>C |