HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133951305C>T , CM000665.2:g.133951305C>T | GRCh38 |
NC_000003.11:g.133670149C>T , CM000665.1:g.133670149C>T | GRCh37 |
NC_000003.10:g.135152839C>T | NCBI36 |
NG_031964.2:g.105880G>A | |
NG_031964.3:g.105880G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310926.11:c.764G>A MANE Select | ENSP00000311291.4:p.Gly255Glu | |
ENST00000310926.8:c.764G>A | ENSP00000311291.4:p.Gly255Glu | |
ENST00000462770.5:n.521-2605G>A | ||
ENST00000464676.5:n.1026G>A | ||
ENST00000481359.3:c.764G>A | ENSP00000420028.3:p.Gly255Glu | |
ENST00000493729.5:c.536G>A | ENSP00000418893.1:p.Gly179Glu | |
NM_005630.2:c.764G>A | NP_005621.2:p.Gly255Glu | |
XM_011513090.1:c.764G>A | XP_011511392.1:p.Gly255Glu | |
XM_017007077.1:c.260G>A | XP_016862566.1:p.Gly87Glu | |
XM_024453721.1:c.764G>A | XP_024309489.1:p.Gly255Glu | |
NM_005630.3:c.764G>A MANE Select | NP_005621.2:p.Gly255Glu |