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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.121854747T>C , CM000666.2:g.121854747T>C
GRCh38
NC_000004.11:g.122775902T>C , CM000666.1:g.122775902T>C
GRCh37
NC_000004.10:g.122995352T>C
NCBI36
NG_009111.1:g.20741A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264499.9:c.675A>G
MANE Select
ENSP00000264499.4:p.Lys225=
ENST00000264499.8:c.675A>G
ENSP00000264499.4:p.Lys225=
ENST00000506636.1:c.675A>G
ENSP00000423626.1:p.Lys225=
NM_018190.3:c.675A>G
NP_060660.2:p.Lys225=
NM_176824.2:c.675A>G
NP_789794.1:p.Lys225=
XM_005263106.2:c.678A>G
XP_005263163.1:p.Lys226=
XM_011532079.1:c.723A>G
XP_011530381.1:p.Lys241=
XM_011532080.1:c.720A>G
XP_011530382.1:p.Lys240=
XM_011532081.1:c.723A>G
XP_011530383.1:p.Lys241=
XM_005263106.4:c.678A>G
XP_005263163.1:p.Lys226=
XM_011532079.3:c.723A>G
XP_011530381.1:p.Lys241=
XM_011532080.3:c.720A>G
XP_011530382.1:p.Lys240=
XM_011532081.3:c.723A>G
XP_011530383.1:p.Lys241=
XM_017008357.2:c.675A>G
XP_016863846.1:p.Lys225=
XM_017008358.2:c.678A>G
XP_016863847.1:p.Lys226=
NM_176824.3:c.675A>G
MANE Select
NP_789794.1:p.Lys225=
NM_018190.4:c.675A>G
NP_060660.2:p.Lys225=