HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33092677G>A , CM000668.2:g.33092677G>A | GRCh38 |
NC_000006.11:g.33060454G>A , CM000668.1:g.33060454G>A | GRCh37 |
NC_000006.10:g.33168432G>A | NCBI36 |
NG_033242.1:g.21752G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000433582.1:n.300+216C>T |