HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19483357T>A , CM000686.2:g.19483357T>A | GRCh38 |
NC_000024.9:g.21645243T>A , CM000686.1:g.21645243T>A | GRCh37 |
NC_000024.8:g.20104631T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.112-3063A>T | ||
ENST00000400605.5:n.106-3063A>T | ||
ENST00000441139.5:n.123-3063A>T | ||
ENST00000513194.1:n.1528A>T | ||
NR_002923.2:n.123-3063A>T | ||
NR_033732.1:n.123-3063A>T |