HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147877906G>A , CM000669.2:g.147877906G>A | GRCh38 |
NC_000007.13:g.147574998G>A , CM000669.1:g.147574998G>A | GRCh37 |
NC_000007.12:g.147205931G>A | NCBI36 |
NG_007092.2:g.1766546G>A | |
NG_007092.3:g.1766906G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.2099-25659G>A MANE Select | ENSP00000354778.3:n.2099-25659G>A | |
ENST00000636870.1:n.1961-25659G>A | ||
ENST00000637825.1:n.1582-25659G>A | ||
ENST00000361727.7:c.2099-25659G>A | ENSP00000354778.3:n.2099-25659G>A | |
ENST00000455301.2:n.34-25659G>A | ||
ENST00000627772.2:n.272-25659G>A | ||
NM_014141.5:c.2099-25659G>A | NP_054860.1:n.2099-25659G>A | |
XM_006715919.1:c.587-25659G>A | XP_006715982.1:n.587-25659G>A | |
NM_014141.6:c.2099-25659G>A MANE Select | NP_054860.1:n.2099-25659G>A |