HGVS | Genome Assembly |
---|---|
NC_000002.12:g.227164745C>A , CM000664.2:g.227164745C>A | GRCh38 |
NC_000002.11:g.228029461C>A , CM000664.1:g.228029461C>A | GRCh37 |
NC_000002.10:g.227737705C>A | NCBI36 |
NG_011591.1:g.5181C>A , LRG_230:g.5181C>A | |
NG_011592.1:g.4815G>T , LRG_231:g.4815G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396578.8:c.19C>A MANE Select | ENSP00000379823.3:p.Pro7Thr | |
ENST00000396578.7:c.19C>A | ENSP00000379823.3:p.Pro7Thr | |
NM_000091.4:c.19C>A , LRG_230t1:c.19C>A | NP_000082.2:p.Pro7Thr | |
XM_005246276.2:c.19C>A | XP_005246333.1:p.Pro7Thr | |
XM_005246277.2:c.19C>A | XP_005246334.1:p.Pro7Thr | |
XM_005246280.2:c.19C>A | XP_005246337.1:p.Pro7Thr | |
XM_006712245.2:c.19C>A | XP_006712308.1:p.Pro7Thr | |
XM_011510555.1:c.19C>A | XP_011508857.1:p.Pro7Thr | |
XR_241280.2:n.157C>A | ||
XM_005246277.3:c.19C>A | XP_005246334.1:p.Pro7Thr | |
XM_005246280.3:c.19C>A | XP_005246337.1:p.Pro7Thr | |
XM_006712245.3:c.19C>A | XP_006712308.1:p.Pro7Thr | |
XM_017003295.1:c.19C>A | XP_016858784.1:p.Pro7Thr | |
XR_001738601.1:n.157C>A | ||
XR_241280.3:n.157C>A | ||
NM_000091.5:c.19C>A MANE Select | NP_000082.2:p.Pro7Thr |