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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91220811T>C , CM000671.2:g.91220811T>C
GRCh38
NC_000009.11:g.93983093T>C , CM000671.1:g.93983093T>C
GRCh37
NC_000009.10:g.93022914T>C
NCBI36
NG_008017.1:g.146114A>G , LRG_449:g.146114A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.837A>G
MANE Select
ENSP00000364883.5:p.Leu279=
ENST00000303617.5:c.750A>G
ENSP00000307334.5:p.Leu250=
ENST00000375731.8:c.837A>G
ENSP00000364883.4:p.Leu279=
ENST00000473695.1:n.109A>G
NM_001306190.1:c.750A>G
NP_001293119.1:p.Leu250=
NM_001698.2:c.837A>G , LRG_449t1:c.837A>G
NP_001689.1:p.Leu279=
XM_005252066.2:c.867A>G
XP_005252123.1:p.Leu289=
XM_005252067.3:c.867A>G
XP_005252124.1:p.Leu289=
XM_005252069.3:c.867A>G
XP_005252126.1:p.Leu289=
XM_005252073.2:c.375A>G
XP_005252130.1:p.Leu125=
XM_006717150.2:c.780A>G
XP_006717213.1:p.Leu260=
XM_011518801.1:c.513A>G
XP_011517103.1:p.Leu171=
XM_011518802.1:c.510A>G
XP_011517104.1:p.Leu170=
NM_001351431.1:c.510A>G
NP_001338360.1:p.Leu170=
NM_001351432.1:c.510A>G
NP_001338361.1:p.Leu170=
NM_001351433.1:c.510A>G
NP_001338362.1:p.Leu170=
XM_005252066.3:c.867A>G
XP_005252123.1:p.Leu289=
XM_005252067.4:c.867A>G
XP_005252124.1:p.Leu289=
XM_005252069.4:c.867A>G
XP_005252126.1:p.Leu289=
XM_006717150.3:c.780A>G
XP_006717213.1:p.Leu260=
XM_017014849.1:c.837A>G
XP_016870338.1:p.Leu279=
XR_001746328.2:n.1062A>G
XR_001746329.2:n.1014A>G
NM_001698.3:c.837A>G
MANE Select
NP_001689.1:p.Leu279=
NM_001306190.2:c.750A>G
NP_001293119.1:p.Leu250=
NM_001351431.2:c.510A>G
NP_001338360.1:p.Leu170=
NM_001351432.2:c.510A>G
NP_001338361.1:p.Leu170=
NM_001351433.2:c.510A>G
NP_001338362.1:p.Leu170=