HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73418166G>C , CM000666.2:g.73418166G>C | GRCh38 |
NC_000004.11:g.74283883G>C , CM000666.1:g.74283883G>C | GRCh37 |
NC_000004.10:g.74502747G>C | NCBI36 |
NG_009291.1:g.18912G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295897.9:c.1507G>C MANE Select | ENSP00000295897.4:p.Glu503Gln | |
ENST00000295897.8:c.1507G>C | ENSP00000295897.4:p.Glu503Gln | |
ENST00000401494.7:c.1162G>C | ENSP00000384695.3:p.Glu388Gln | |
ENST00000415165.6:c.931G>C | ENSP00000401820.2:p.Glu311Gln | |
ENST00000476441.6:c.*786G>C | ENSP00000423727.1:n.*786G>C | |
ENST00000486939.1:n.161G>C | ||
ENST00000503124.5:c.1057G>C | ENSP00000421027.1:p.Glu353Gln | |
ENST00000505649.5:n.1054G>C | ||
ENST00000509063.5:c.1507G>C | ENSP00000422784.1:p.Glu503Gln | |
ENST00000511370.1:c.1040G>C | ||
ENST00000621085.4:c.868G>C | ENSP00000483421.1:p.Glu290Gln | |
ENST00000621628.4:c.868G>C | ENSP00000480485.1:p.Glu290Gln | |
NM_000477.5:c.1507G>C | NP_000468.1:p.Glu503Gln | |
NM_000477.6:c.1507G>C | NP_000468.1:p.Glu503Gln | |
NM_000477.7:c.1507G>C MANE Select | NP_000468.1:p.Glu503Gln |