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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91220954G>A , CM000671.2:g.91220954G>A
GRCh38
NC_000009.11:g.93983236G>A , CM000671.1:g.93983236G>A
GRCh37
NC_000009.10:g.93023057G>A
NCBI36
NG_008017.1:g.145971C>T , LRG_449:g.145971C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.694C>T
MANE Select
ENSP00000364883.5:p.Leu232=
ENST00000303617.5:c.607C>T
ENSP00000307334.5:p.Leu203=
ENST00000375731.8:c.694C>T
ENSP00000364883.4:p.Leu232=
NM_001306190.1:c.607C>T
NP_001293119.1:p.Leu203=
NM_001698.2:c.694C>T , LRG_449t1:c.694C>T
NP_001689.1:p.Leu232=
XM_005252066.2:c.724C>T
XP_005252123.1:p.Leu242=
XM_005252067.3:c.724C>T
XP_005252124.1:p.Leu242=
XM_005252069.3:c.724C>T
XP_005252126.1:p.Leu242=
XM_005252073.2:c.232C>T
XP_005252130.1:p.Leu78=
XM_006717150.2:c.637C>T
XP_006717213.1:p.Leu213=
XM_011518801.1:c.370C>T
XP_011517103.1:p.Leu124=
XM_011518802.1:c.367C>T
XP_011517104.1:p.Leu123=
NM_001351431.1:c.367C>T
NP_001338360.1:p.Leu123=
NM_001351432.1:c.367C>T
NP_001338361.1:p.Leu123=
NM_001351433.1:c.367C>T
NP_001338362.1:p.Leu123=
XM_005252066.3:c.724C>T
XP_005252123.1:p.Leu242=
XM_005252067.4:c.724C>T
XP_005252124.1:p.Leu242=
XM_005252069.4:c.724C>T
XP_005252126.1:p.Leu242=
XM_006717150.3:c.637C>T
XP_006717213.1:p.Leu213=
XM_017014849.1:c.694C>T
XP_016870338.1:p.Leu232=
XR_001746328.2:n.919C>T
XR_001746329.2:n.871C>T
NM_001698.3:c.694C>T
MANE Select
NP_001689.1:p.Leu232=
NM_001306190.2:c.607C>T
NP_001293119.1:p.Leu203=
NM_001351431.2:c.367C>T
NP_001338360.1:p.Leu123=
NM_001351432.2:c.367C>T
NP_001338361.1:p.Leu123=
NM_001351433.2:c.367C>T
NP_001338362.1:p.Leu123=