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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91220838C= , CM000671.2:g.91220838C=
GRCh38
NC_000009.11:g.93983120C= , CM000671.1:g.93983120C=
GRCh37
NC_000009.10:g.93022941C=
NCBI36
NG_008017.1:g.146087G= , LRG_449:g.146087G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.810G=
MANE Select
ENSP00000364883.5:p.Lys270=
ENST00000303617.5:c.723G=
ENSP00000307334.5:p.Lys241=
ENST00000375731.8:c.810G=
ENSP00000364883.4:p.Lys270=
ENST00000473695.1:n.82G=
NM_001306190.1:c.723G=
NP_001293119.1:p.Lys241=
NM_001698.2:c.810G= , LRG_449t1:c.810G=
NP_001689.1:p.Lys270=
XM_005252066.2:c.840G=
XP_005252123.1:p.Lys280=
XM_005252067.3:c.840G=
XP_005252124.1:p.Lys280=
XM_005252069.3:c.840G=
XP_005252126.1:p.Lys280=
XM_005252073.2:c.348G=
XP_005252130.1:p.Lys116=
XM_006717150.2:c.753G=
XP_006717213.1:p.Lys251=
XM_011518801.1:c.486G=
XP_011517103.1:p.Lys162=
XM_011518802.1:c.483G=
XP_011517104.1:p.Lys161=
NM_001351431.1:c.483G=
NP_001338360.1:p.Lys161=
NM_001351432.1:c.483G=
NP_001338361.1:p.Lys161=
NM_001351433.1:c.483G=
NP_001338362.1:p.Lys161=
XM_005252066.3:c.840G=
XP_005252123.1:p.Lys280=
XM_005252067.4:c.840G=
XP_005252124.1:p.Lys280=
XM_005252069.4:c.840G=
XP_005252126.1:p.Lys280=
XM_006717150.3:c.753G=
XP_006717213.1:p.Lys251=
XM_017014849.1:c.810G=
XP_016870338.1:p.Lys270=
XR_001746328.2:n.1035G=
XR_001746329.2:n.987G=
NM_001698.3:c.810G=
MANE Select
NP_001689.1:p.Lys270=
NM_001306190.2:c.723G=
NP_001293119.1:p.Lys241=
NM_001351431.2:c.483G=
NP_001338360.1:p.Lys161=
NM_001351432.2:c.483G=
NP_001338361.1:p.Lys161=
NM_001351433.2:c.483G=
NP_001338362.1:p.Lys161=