HGVS | Genome Assembly |
---|---|
NC_000006.12:g.126514509C>A , CM000668.2:g.126514509C>A | GRCh38 |
NC_000006.11:g.126835655C>A , CM000668.1:g.126835655C>A | GRCh37 |
NC_000006.10:g.126877348C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650727.1:n.3037-16984G>T | ||
ENST00000651326.1:n.2290-41915G>T | ||
ENST00000652383.1:n.630+17154G>T | ||
ENST00000652545.1:n.3347-16984G>T |