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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.53123810G>A , CM000665.2:g.53123810G>A
GRCh38
NC_000003.11:g.53157826G>A , CM000665.1:g.53157826G>A
GRCh37
NC_000003.10:g.53132866G>A
NCBI36
NG_009203.1:g.11645C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296292.8:c.180C>T
MANE Select
ENSP00000296292.3:p.Phe60=
ENST00000296292.7:c.180C>T
ENSP00000296292.3:p.Phe60=
ENST00000394738.7:c.150-1247C>T
ENSP00000378223.3:n.150-1247C>T
ENST00000467048.1:c.180C>T
ENSP00000420325.1:p.Phe60=
NM_052859.3:c.180C>T
NP_443091.1:p.Phe60=
XM_005265537.3:c.180C>T
XP_005265594.1:p.Phe60=
XM_006713384.2:c.180C>T
XP_006713447.1:p.Phe60=
XM_011534214.1:c.180C>T
XP_011532516.1:p.Phe60=
XM_011534215.1:c.180C>T
XP_011532517.1:p.Phe60=
XR_940507.1:n.239C>T
XM_005265537.4:c.180C>T
XP_005265594.1:p.Phe60=
XM_006713384.3:c.180C>T
XP_006713447.1:p.Phe60=
XM_011534214.2:c.180C>T
XP_011532516.1:p.Phe60=
XM_011534215.3:c.180C>T
XP_011532517.1:p.Phe60=
XM_011534216.3:c.-661C>T
XP_011532518.1:n.-661C>T
XM_017007460.1:c.180C>T
XP_016862949.1:p.Phe60=
XM_017007461.2:c.-661C>T
XP_016862950.1:n.-661C>T
XR_001740360.2:n.246C>T
NM_052859.4:c.180C>T
MANE Select
NP_443091.1:p.Phe60=