HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65862463G>A , CM000673.2:g.65862463G>A | GRCh38 |
NC_000011.9:g.65629934G>A , CM000673.1:g.65629934G>A | GRCh37 |
NC_000011.8:g.65386510G>A | NCBI36 |
NG_053116.1:g.7402G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308110.9:c.539G>A MANE Select | ENSP00000307853.4:p.Arg180Gln | |
ENST00000308110.8:c.539G>A | ENSP00000307853.4:p.Arg180Gln | |
ENST00000524647.5:c.433G>A | ||
ENST00000525768.5:c.314G>A | ENSP00000431478.1:p.Arg105Gln | |
ENST00000529374.5:c.312G>A | ||
ENST00000530111.1:c.225G>A | ||
ENST00000531905.1:n.777G>A | ||
ENST00000533035.5:c.314G>A | ENSP00000432287.1:p.Arg105Gln | |
ENST00000533555.5:n.327G>A | ||
NM_025128.4:c.539G>A | NP_079404.3:p.Arg180Gln | |
XM_005274307.1:c.539G>A | XP_005274364.1:p.Arg180Gln | |
XM_011545269.1:c.539G>A | XP_011543571.1:p.Arg180Gln | |
XM_011545270.1:c.539G>A | XP_011543572.1:p.Arg180Gln | |
XM_011545271.1:c.539G>A | XP_011543573.1:p.Arg180Gln | |
XR_247212.2:n.707G>A | ||
XR_950067.1:n.707G>A | ||
NM_001350283.1:c.539G>A | NP_001337212.1:p.Arg180Gln | |
NR_146598.1:n.892G>A | ||
XR_001747984.1:n.707G>A | ||
XR_001747985.1:n.707G>A | ||
XR_001747986.1:n.707G>A | ||
XR_247212.3:n.707G>A | ||
XR_950067.2:n.707G>A | ||
NM_025128.5:c.539G>A MANE Select | NP_079404.3:p.Arg180Gln | |
NM_001350283.2:c.539G>A | NP_001337212.1:p.Arg180Gln | |
NR_146598.2:n.860G>A |