HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44386246C>A , CM000672.2:g.44386246C>A | GRCh38 |
NC_000010.10:g.44881694C>A , CM000672.1:g.44881694C>A | GRCh37 |
NC_000010.9:g.44201700C>A | NCBI36 |
NG_016861.1:g.3852G>T | |
NG_016861.2:g.3852G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496375.1:n.248G>T |