HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44385992G>A , CM000672.2:g.44385992G>A | GRCh38 |
NC_000010.10:g.44881440G>A , CM000672.1:g.44881440G>A | GRCh37 |
NC_000010.9:g.44201446G>A | NCBI36 |
NG_016861.1:g.4106C>T | |
NG_016861.2:g.4106C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496375.1:n.502C>T |