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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.5613291T>G , CM000668.2:g.5613291T>G
GRCh38
NC_000006.11:g.5613524T>G , CM000668.1:g.5613524T>G
GRCh37
NC_000006.10:g.5558523T>G
NCBI36
NG_033003.1:g.356941T>G
NG_033003.2:g.356941T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000274680.9:c.1188T>G
MANE Select
ENSP00000274680.4:p.Val396=
ENST00000648580.1:c.1188T>G
ENSP00000497889.1:p.Val396=
ENST00000274680.8:c.1188T>G
ENSP00000274680.3:p.Val396=
ENST00000324331.10:c.1188T>G
ENSP00000316335.5:p.Val396=
NM_006567.3:c.1188T>G
NP_006558.1:p.Val396=
XM_005248811.1:c.1188T>G
XP_005248868.1:p.Val396=
XM_005248812.2:c.1188T>G
XP_005248869.1:p.Val396=
XM_011514247.1:c.1188T>G
XP_011512549.1:p.Val396=
XM_011514248.1:c.1188T>G
XP_011512550.1:p.Val396=
XM_011514249.1:c.1188T>G
XP_011512551.1:p.Val396=
XR_926026.1:n.2162T>G
XR_926028.1:n.1651T>G
NM_001318872.1:c.1188T>G
NP_001305801.1:p.Val396=
NM_006567.4:c.1188T>G
NP_006558.1:p.Val396=
XM_005248812.3:c.1188T>G
XP_005248869.1:p.Val396=
XM_011514247.3:c.1188T>G
XP_011512549.1:p.Val396=
XM_011514248.3:c.1188T>G
XP_011512550.1:p.Val396=
XM_011514249.2:c.1188T>G
XP_011512551.1:p.Val396=
XM_017010186.1:c.1188T>G
XP_016865675.1:p.Val396=
XM_017010187.1:c.1188T>G
XP_016865676.1:p.Val396=
XR_926028.2:n.1628T>G
NM_001318872.2:c.1188T>G
NP_001305801.1:p.Val396=
NM_001374875.1:c.1188T>G
NP_001361804.1:p.Val396=
NM_001374876.1:c.1188T>G
NP_001361805.1:p.Val396=
NM_001374877.1:c.1188T>G
NP_001361806.1:p.Val396=
NM_001374878.1:c.1188T>G
NP_001361807.1:p.Val396=
NM_001374879.1:c.1188T>G
NP_001361808.1:p.Val396=
NM_001375257.1:c.1188T>G
NP_001362186.1:p.Val396=
NM_001375258.1:c.1056T>G
NP_001362187.1:p.Val352=
NM_001375259.1:c.492T>G
NP_001362188.1:p.Val164=
NM_001375260.1:c.492T>G
NP_001362189.1:p.Val164=
NM_006567.5:c.1188T>G
MANE Select
NP_006558.1:p.Val396=