HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44386040G>A , CM000672.2:g.44386040G>A | GRCh38 |
NC_000010.10:g.44881488G>A , CM000672.1:g.44881488G>A | GRCh37 |
NC_000010.9:g.44201494G>A | NCBI36 |
NG_016861.1:g.4058C>T | |
NG_016861.2:g.4058C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496375.1:n.454C>T |