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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91220819C= , CM000671.2:g.91220819C=
GRCh38
NC_000009.11:g.93983101C= , CM000671.1:g.93983101C=
GRCh37
NC_000009.10:g.93022922C=
NCBI36
NG_008017.1:g.146106G= , LRG_449:g.146106G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.829G=
MANE Select
ENSP00000364883.5:p.Glu277=
ENST00000303617.5:c.742G=
ENSP00000307334.5:p.Glu248=
ENST00000375731.8:c.829G=
ENSP00000364883.4:p.Glu277=
ENST00000473695.1:n.101G=
NM_001306190.1:c.742G=
NP_001293119.1:p.Glu248=
NM_001698.2:c.829G= , LRG_449t1:c.829G=
NP_001689.1:p.Glu277=
XM_005252066.2:c.859G=
XP_005252123.1:p.Glu287=
XM_005252067.3:c.859G=
XP_005252124.1:p.Glu287=
XM_005252069.3:c.859G=
XP_005252126.1:p.Glu287=
XM_005252073.2:c.367G=
XP_005252130.1:p.Glu123=
XM_006717150.2:c.772G=
XP_006717213.1:p.Glu258=
XM_011518801.1:c.505G=
XP_011517103.1:p.Glu169=
XM_011518802.1:c.502G=
XP_011517104.1:p.Glu168=
NM_001351431.1:c.502G=
NP_001338360.1:p.Glu168=
NM_001351432.1:c.502G=
NP_001338361.1:p.Glu168=
NM_001351433.1:c.502G=
NP_001338362.1:p.Glu168=
XM_005252066.3:c.859G=
XP_005252123.1:p.Glu287=
XM_005252067.4:c.859G=
XP_005252124.1:p.Glu287=
XM_005252069.4:c.859G=
XP_005252126.1:p.Glu287=
XM_006717150.3:c.772G=
XP_006717213.1:p.Glu258=
XM_017014849.1:c.829G=
XP_016870338.1:p.Glu277=
XR_001746328.2:n.1054G=
XR_001746329.2:n.1006G=
NM_001698.3:c.829G=
MANE Select
NP_001689.1:p.Glu277=
NM_001306190.2:c.742G=
NP_001293119.1:p.Glu248=
NM_001351431.2:c.502G=
NP_001338360.1:p.Glu168=
NM_001351432.2:c.502G=
NP_001338361.1:p.Glu168=
NM_001351433.2:c.502G=
NP_001338362.1:p.Glu168=