HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73419619G>A , CM000666.2:g.73419619G>A | GRCh38 |
NC_000004.11:g.74285336G>A , CM000666.1:g.74285336G>A | GRCh37 |
NC_000004.10:g.74504200G>A | NCBI36 |
NG_009291.1:g.20365G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295897.9:c.1765G>A MANE Select | ENSP00000295897.4:p.Glu589Lys | |
ENST00000295897.8:c.1765G>A | ENSP00000295897.4:p.Glu589Lys | |
ENST00000401494.7:c.1420G>A | ENSP00000384695.3:p.Glu474Lys | |
ENST00000415165.6:c.1189G>A | ENSP00000401820.2:p.Glu397Lys | |
ENST00000476441.6:c.*1044G>A | ENSP00000423727.1:n.*1044G>A | |
ENST00000495173.1:n.73G>A | ||
ENST00000503124.5:c.1315G>A | ENSP00000421027.1:p.Glu439Lys | |
ENST00000505649.5:n.1312G>A | ||
ENST00000508932.5:n.175+164G>A | ||
ENST00000509063.5:c.1765G>A | ENSP00000422784.1:p.Glu589Lys | |
ENST00000511370.1:c.1298G>A | ||
ENST00000621085.4:c.1126G>A | ENSP00000483421.1:p.Glu376Lys | |
ENST00000621628.4:c.1126G>A | ENSP00000480485.1:p.Glu376Lys | |
NM_000477.5:c.1765G>A | NP_000468.1:p.Glu589Lys | |
NM_000477.6:c.1765G>A | NP_000468.1:p.Glu589Lys | |
NM_000477.7:c.1765G>A MANE Select | NP_000468.1:p.Glu589Lys |