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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.119841235T>C , CM000685.2:g.119841235T>C
GRCh38
NC_000023.10:g.118975198T>C , CM000685.1:g.118975198T>C
GRCh37
NC_000023.9:g.118859226T>C
NCBI36
NG_009241.1:g.16771A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000276201.7:c.648A>G
MANE Select
ENSP00000276201.3:p.Glu216=
ENST00000276201.6:c.648A>G
ENSP00000276201.2:p.Glu216=
ENST00000345865.6:c.648A>G
ENSP00000245418.2:p.Glu216=
ENST00000478840.1:n.236A>G
ENST00000619445.1:c.624+500A>G
ENSP00000481698.1:n.624+500A>G
NM_023010.3:c.648A>G
NP_075386.1:p.Glu216=
NM_080632.2:c.648A>G
NP_542199.1:p.Glu216=
XM_005262458.3:c.648A>G
XP_005262515.1:p.Glu216=
XM_006724780.2:c.648A>G
XP_006724843.1:p.Glu216=
XM_006724781.2:c.648A>G
XP_006724844.1:p.Glu216=
XM_011531378.1:c.648A>G
XP_011529680.1:p.Glu216=
XM_011531379.1:c.648A>G
XP_011529681.1:p.Glu216=
XM_017029737.1:c.648A>G
XP_016885226.1:p.Glu216=
XM_017029738.1:c.648A>G
XP_016885227.1:p.Glu216=
XM_017029739.1:c.648A>G
XP_016885228.1:p.Glu216=
XM_017029740.1:c.648A>G
XP_016885229.1:p.Glu216=
NM_080632.3:c.648A>G
MANE Select
NP_542199.1:p.Glu216=
NM_023010.4:c.648A>G
NP_075386.1:p.Glu216=