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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.53207733G= , CM000680.2:g.53207733G=
GRCh38
NC_000018.9:g.50734103G= , CM000680.1:g.50734103G=
GRCh37
NC_000018.8:g.48988101G=
NCBI36
NG_013341.1:g.872562G=
NG_013341.2:g.872562G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000442544.7:c.1777G=
MANE Select
ENSP00000389140.2:p.Glu593=
ENST00000304775.12:c.1578G=
ENST00000412726.5:c.1708G=
ENSP00000397322.2:p.Glu570=
ENST00000442544.6:c.1777G=
ENSP00000389140.2:p.Glu593=
ENST00000581580.5:c.742G=
ENSP00000464582.1:p.Glu248=
NM_005215.3:c.1777G=
NP_005206.2:p.Glu593=
XM_011525843.1:c.1777G=
XP_011524145.1:p.Glu593=
XM_011525844.1:c.742G=
XP_011524146.1:p.Glu248=
XM_011525845.1:c.1777G=
XP_011524147.1:p.Glu593=
XM_011525846.1:c.1777G=
XP_011524148.1:p.Glu593=
XM_011525844.2:c.742G=
XP_011524146.1:p.Glu248=
XM_017025568.1:c.1777G=
XP_016881057.1:p.Glu593=
XM_017025569.1:c.1777G=
XP_016881058.1:p.Glu593=
XM_017025570.1:c.742G=
XP_016881059.1:p.Glu248=
NM_005215.4:c.1777G=
MANE Select
NP_005206.2:p.Glu593=