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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.121854726A= , CM000666.2:g.121854726A=
GRCh38
NC_000004.11:g.122775881A= , CM000666.1:g.122775881A=
GRCh37
NC_000004.10:g.122995331A=
NCBI36
NG_009111.1:g.20762T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264499.9:c.696T=
MANE Select
ENSP00000264499.4:p.Ile232=
ENST00000264499.8:c.696T=
ENSP00000264499.4:p.Ile232=
ENST00000506636.1:c.696T=
ENSP00000423626.1:p.Ile232=
NM_018190.3:c.696T=
NP_060660.2:p.Ile232=
NM_176824.2:c.696T=
NP_789794.1:p.Ile232=
XM_005263106.2:c.699T=
XP_005263163.1:p.Ile233=
XM_011532079.1:c.744T=
XP_011530381.1:p.Ile248=
XM_011532080.1:c.741T=
XP_011530382.1:p.Ile247=
XM_011532081.1:c.744T=
XP_011530383.1:p.Ile248=
XM_005263106.4:c.699T=
XP_005263163.1:p.Ile233=
XM_011532079.3:c.744T=
XP_011530381.1:p.Ile248=
XM_011532080.3:c.741T=
XP_011530382.1:p.Ile247=
XM_011532081.3:c.744T=
XP_011530383.1:p.Ile248=
XM_017008357.2:c.696T=
XP_016863846.1:p.Ile232=
XM_017008358.2:c.699T=
XP_016863847.1:p.Ile233=
NM_176824.3:c.696T=
MANE Select
NP_789794.1:p.Ile232=
NM_018190.4:c.696T=
NP_060660.2:p.Ile232=