HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19484637C>A , CM000686.2:g.19484637C>A | GRCh38 |
NC_000024.9:g.21646523C>A , CM000686.1:g.21646523C>A | GRCh37 |
NC_000024.8:g.20105911C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650676.1:n.112-4343G>T | ||
ENST00000400605.5:n.106-4343G>T | ||
ENST00000441139.5:n.123-4343G>T | ||
ENST00000513194.1:n.248G>T | ||
NR_002923.2:n.123-4343G>T | ||
NR_033732.1:n.123-4343G>T |