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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.154465353C>T , CM000663.2:g.154465353C>T
GRCh38
NC_000001.10:g.154437829C>T , CM000663.1:g.154437829C>T
GRCh37
NC_000001.9:g.152704453C>T
NCBI36
NG_012087.1:g.65161C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368485.8:c.1380C>T
MANE Select
ENSP00000357470.3:p.Ser460=
ENST00000344086.8:c.*188C>T
ENSP00000340589.4:n.*188C>T
ENST00000368485.7:c.1380C>T
ENSP00000357470.3:p.Ser460=
NM_000565.3:c.1380C>T
NP_000556.1:p.Ser460=
NM_181359.2:c.*188C>T
NP_852004.1:n.*188C>T
XM_005245139.1:c.*61C>T
XP_005245196.1:n.*61C>T
XM_005245140.1:c.*221C>T
XP_005245197.1:n.*221C>T
XM_006711298.1:c.1428C>T
XP_006711361.1:p.Ser476=
XM_005245139.2:c.*61C>T
XP_005245196.1:n.*61C>T
XM_005245140.3:c.*221C>T
XP_005245197.1:n.*221C>T
XM_006711298.2:c.1428C>T
XP_006711361.1:p.Ser476=
XM_017001199.2:c.1527C>T
XP_016856688.1:p.Ser509=
XM_017001200.2:c.1479C>T
XP_016856689.1:p.Ser493=
XM_017001201.2:c.*221C>T
XP_016856690.1:n.*221C>T
NM_000565.4:c.1380C>T
MANE Select
NP_000556.1:p.Ser460=
NM_181359.3:c.*188C>T
NP_852004.1:n.*188C>T
NM_001382769.1:c.1479C>T
NP_001369698.1:p.Ser493=
NM_001382770.1:c.1473C>T
NP_001369699.1:p.Ser491=
NM_001382771.1:c.1428C>T
NP_001369700.1:p.Ser476=
NM_001382772.1:c.1374C>T
NP_001369701.1:p.Ser458=
NM_001382773.1:c.*188C>T
NP_001369702.1:n.*188C>T
NM_001382774.1:c.1020C>T
NP_001369703.1:p.Ser340=