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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91361758T>C , CM000671.2:g.91361758T>C
GRCh38
NC_000009.11:g.94124040T>C , CM000671.1:g.94124040T>C
GRCh37
NC_000009.10:g.93163861T>C
NCBI36
NG_008017.1:g.5167A>G , LRG_449:g.5167A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.132A>G
MANE Select
ENSP00000364883.5:p.Arg44=
ENST00000303617.5:c.132A>G
ENSP00000307334.5:p.Arg44=
ENST00000375731.8:c.132A>G
ENSP00000364883.4:p.Arg44=
ENST00000478465.5:n.130A>G
NM_001306190.1:c.132A>G
NP_001293119.1:p.Arg44=
NM_001698.2:c.132A>G , LRG_449t1:c.132A>G
NP_001689.1:p.Arg44=
XM_005252066.2:c.132A>G
XP_005252123.1:p.Arg44=
XM_005252067.3:c.132A>G
XP_005252124.1:p.Arg44=
XM_005252069.3:c.132A>G
XP_005252126.1:p.Arg44=
XM_005252072.1:c.132A>G
XP_005252129.1:p.Arg44=
XM_006717150.2:c.132A>G
XP_006717213.1:p.Arg44=
XM_011518800.1:c.132A>G
XP_011517102.1:p.Arg44=
XM_011518803.1:c.132A>G
XP_011517105.1:p.Arg44=
XM_011518804.1:c.132A>G
XP_011517106.1:p.Arg44=
XR_929814.1:n.182A>G
NM_001351431.1:c.-266A>G
NP_001338360.1:n.-266A>G
NM_001351432.1:c.-358A>G
NP_001338361.1:n.-358A>G
NM_001351433.1:c.-266A>G
NP_001338362.1:n.-266A>G
XM_005252066.3:c.132A>G
XP_005252123.1:p.Arg44=
XM_005252067.4:c.132A>G
XP_005252124.1:p.Arg44=
XM_005252069.4:c.132A>G
XP_005252126.1:p.Arg44=
XM_005252072.2:c.132A>G
XP_005252129.1:p.Arg44=
XM_006717150.3:c.132A>G
XP_006717213.1:p.Arg44=
XM_011518800.3:c.132A>G
XP_011517102.1:p.Arg44=
XM_011518803.2:c.132A>G
XP_011517105.1:p.Arg44=
XM_017014849.1:c.132A>G
XP_016870338.1:p.Arg44=
XR_001746328.2:n.185A>G
XR_001746329.2:n.167A>G
NM_001698.3:c.132A>G
MANE Select
NP_001689.1:p.Arg44=
NM_001306190.2:c.132A>G
NP_001293119.1:p.Arg44=
NM_001351431.2:c.-266A>G
NP_001338360.1:n.-266A>G
NM_001351432.2:c.-358A>G
NP_001338361.1:n.-358A>G
NM_001351433.2:c.-266A>G
NP_001338362.1:n.-266A>G