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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46118364G= , CM000682.2:g.46118364G=
GRCh38
NC_000020.10:g.44747003G= , CM000682.1:g.44747003G=
GRCh37
NC_000020.9:g.44180410G=
NCBI36
NG_007279.1:g.5098G= , LRG_40:g.5098G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000477696.6:c.21G=
ENSP00000512095.1:p.Gln7=
ENST00000489304.6:c.21G=
ENSP00000512096.1:p.Gln7=
ENST00000695669.1:n.94G=
ENST00000695670.1:n.80G=
ENST00000695671.1:c.21G=
ENSP00000512093.1:p.Gln7=
ENST00000695672.1:n.25G=
ENST00000372285.8:c.21G=
MANE Select
ENSP00000361359.3:p.Gln7=
ENST00000372276.7:c.21G=
ENSP00000361350.3:p.Gln7=
ENST00000372285.7:c.21G=
ENSP00000361359.3:p.Gln7=
ENST00000466205.5:c.17G=
ENST00000489304.5:n.14G=
ENST00000620709.4:c.21G=
ENSP00000484074.1:p.Gln7=
NM_001250.5:c.21G=
NP_001241.1:p.Gln7=
NM_001302753.1:c.21G=
NP_001289682.1:p.Gln7=
NM_152854.3:c.21G=
NP_690593.1:p.Gln7=
NR_126502.1:n.111G=
XM_005260617.2:c.21G=
XP_005260674.1:p.Gln7=
XM_005260619.2:c.21G=
XP_005260676.1:p.Gln7=
XM_011529109.1:c.21G=
XP_011527411.1:p.Gln7=
XR_936660.1:n.115G=
NM_001322421.1:c.21G=
NP_001309350.1:p.Gln7=
NM_001322422.1:c.21G=
NP_001309351.1:p.Gln7=
NM_001362758.1:c.21G=
NP_001349687.1:p.Gln7=
NR_136327.1:n.111G=
XM_005260619.3:c.21G=
XP_005260676.1:p.Gln7=
XM_011529109.2:c.21G=
XP_011527411.1:p.Gln7=
XM_017028135.1:c.21G=
XP_016883624.1:p.Gln7=
XM_017028136.1:c.21G=
XP_016883625.1:p.Gln7=
NM_001250.6:c.21G=
MANE Select
NP_001241.1:p.Gln7=
NM_001302753.2:c.21G=
NP_001289682.1:p.Gln7=
NM_001322421.2:c.21G=
NP_001309350.1:p.Gln7=
NM_001322422.2:c.21G=
NP_001309351.1:p.Gln7=
NM_001362758.2:c.21G=
NP_001349687.1:p.Gln7=
NM_152854.4:c.21G=
NP_690593.1:p.Gln7=
NR_126502.2:n.51G=
NR_136327.2:n.51G=