HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19466520C>A , CM000686.2:g.19466520C>A | GRCh38 |
NC_000024.9:g.21628406C>A , CM000686.1:g.21628406C>A | GRCh37 |
NC_000024.8:g.20087794C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.1596G>T | ||
ENST00000400605.5:n.1590G>T | ||
ENST00000441139.5:n.1607G>T | ||
ENST00000513194.1:n.4503G>T | ||
NR_002923.2:n.1607G>T | ||
NR_033732.1:n.1607G>T |