HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33118671G>A , CM000668.2:g.33118671G>A | GRCh38 |
NC_000006.11:g.33086448G>A , CM000668.1:g.33086448G>A | GRCh37 |
NC_000006.10:g.33194426G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435074.6:n.721G>A | ||
ENST00000684891.1:n.608G>A | ||
ENST00000686632.1:n.614G>A | ||
ENST00000692641.1:n.617G>A | ||
ENST00000692715.1:n.739G>A | ||
ENST00000435074.5:n.710G>A | ||
ENST00000470997.1:n.364+1451G>A | ||
NR_001435.1:n.364+1451G>A | ||
NR_001435.2:n.364+1451G>A |