HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110351048G>A , CM000674.2:g.110351048G>A | GRCh38 |
NC_000012.11:g.110788853G>A , CM000674.1:g.110788853G>A | GRCh37 |
NC_000012.10:g.109273236G>A | NCBI36 |
NG_007097.2:g.74422G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000539276.7:c.*4578G>A MANE Select | ENSP00000440045.2:n.*4578G>A | |
ENST00000308664.10:c.*743G>A | ENSP00000311186.6:n.*743G>A | |
ENST00000313432.5:n.5530G>A | ||
ENST00000377685.9:c.*5047G>A | ENSP00000366913.4:n.*5047G>A | |
NM_001681.3:c.*743G>A | NP_001672.1:n.*743G>A | |
NM_170665.3:c.*4578G>A | NP_733765.1:n.*4578G>A | |
XM_005253888.1:c.*798G>A | XP_005253945.1:n.*798G>A | |
XR_243009.1:n.4142G>A | ||
XR_002957329.1:n.5213G>A | ||
XR_243009.3:n.4142G>A | ||
NM_170665.4:c.*4578G>A MANE Select | NP_733765.1:n.*4578G>A | |
NM_001681.4:c.*743G>A | NP_001672.1:n.*743G>A |