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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91220986G= , CM000671.2:g.91220986G=
GRCh38
NC_000009.11:g.93983268G= , CM000671.1:g.93983268G=
GRCh37
NC_000009.10:g.93023089G=
NCBI36
NG_008017.1:g.145939C= , LRG_449:g.145939C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.662C=
MANE Select
ENSP00000364883.5:p.Thr221=
ENST00000303617.5:c.575C=
ENSP00000307334.5:p.Thr192=
ENST00000375731.8:c.662C=
ENSP00000364883.4:p.Thr221=
NM_001306190.1:c.575C=
NP_001293119.1:p.Thr192=
NM_001698.2:c.662C= , LRG_449t1:c.662C=
NP_001689.1:p.Thr221=
XM_005252066.2:c.692C=
XP_005252123.1:p.Thr231=
XM_005252067.3:c.692C=
XP_005252124.1:p.Thr231=
XM_005252069.3:c.692C=
XP_005252126.1:p.Thr231=
XM_005252073.2:c.200C=
XP_005252130.1:p.Thr67=
XM_006717150.2:c.605C=
XP_006717213.1:p.Thr202=
XM_011518801.1:c.338C=
XP_011517103.1:p.Thr113=
XM_011518802.1:c.335C=
XP_011517104.1:p.Thr112=
NM_001351431.1:c.335C=
NP_001338360.1:p.Thr112=
NM_001351432.1:c.335C=
NP_001338361.1:p.Thr112=
NM_001351433.1:c.335C=
NP_001338362.1:p.Thr112=
XM_005252066.3:c.692C=
XP_005252123.1:p.Thr231=
XM_005252067.4:c.692C=
XP_005252124.1:p.Thr231=
XM_005252069.4:c.692C=
XP_005252126.1:p.Thr231=
XM_006717150.3:c.605C=
XP_006717213.1:p.Thr202=
XM_017014849.1:c.662C=
XP_016870338.1:p.Thr221=
XR_001746328.2:n.887C=
XR_001746329.2:n.839C=
NM_001698.3:c.662C=
MANE Select
NP_001689.1:p.Thr221=
NM_001306190.2:c.575C=
NP_001293119.1:p.Thr192=
NM_001351431.2:c.335C=
NP_001338360.1:p.Thr112=
NM_001351432.2:c.335C=
NP_001338361.1:p.Thr112=
NM_001351433.2:c.335C=
NP_001338362.1:p.Thr112=