HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44385996C>T , CM000672.2:g.44385996C>T | GRCh38 |
NC_000010.10:g.44881444C>T , CM000672.1:g.44881444C>T | GRCh37 |
NC_000010.9:g.44201450C>T | NCBI36 |
NG_016861.1:g.4102G>A | |
NG_016861.2:g.4102G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496375.1:n.498G>A |