HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94949052G>A , CM000672.2:g.94949052G>A | GRCh38 |
NC_000010.10:g.96708809G>A , CM000672.1:g.96708809G>A | GRCh37 |
NC_000010.9:g.96698799G>A | NCBI36 |
NG_008385.1:g.15395G>A | |
NG_008385.2:g.15895G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.643-56G>A MANE Select | ENSP00000260682.6:n.643-56G>A | |
ENST00000643112.1:c.643-56G>A | ENSP00000496202.1:n.643-56G>A | |
ENST00000260682.6:c.643-56G>A | ENSP00000260682.6:n.643-56G>A | |
ENST00000473496.1:n.414-56G>A | ||
NM_000771.3:c.643-56G>A | NP_000762.2:n.643-56G>A | |
NM_000771.4:c.643-56G>A MANE Select | NP_000762.2:n.643-56G>A |