HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102798354G>A , CM000673.2:g.102798354G>A | GRCh38 |
NC_000011.9:g.102669085G>A , CM000673.1:g.102669085G>A | GRCh37 |
NC_000011.8:g.102174295G>A | NCBI36 |
NG_011740.1:g.4882C>T | |
NG_011740.2:g.4882C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371455.7:n.423+232G>A | ||
ENST00000525739.6:n.682+232G>A | ||
ENST00000544704.1:n.443+232G>A | ||
NR_038390.1:n.682+232G>A |