HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2340761G>A , CM000678.2:g.2340761G>A | GRCh38 |
NC_000016.9:g.2390762G>A , CM000678.1:g.2390762G>A | GRCh37 |
NC_000016.8:g.2330763G>A | NCBI36 |
NG_011790.1:g.4986C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000640929.1:n.42+1430G>A | ||
ENST00000512848.5:n.182+1430G>A |