HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44386044G>T , CM000672.2:g.44386044G>T | GRCh38 |
NC_000010.10:g.44881492G>T , CM000672.1:g.44881492G>T | GRCh37 |
NC_000010.9:g.44201498G>T | NCBI36 |
NG_016861.1:g.4054C>A | |
NG_016861.2:g.4054C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496375.1:n.450C>A |