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Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.24081480G= , CM000676.2:g.24081480G=
GRCh38
NC_000014.8:g.24550689G= , CM000676.1:g.24550689G=
GRCh37
NC_000014.7:g.23620529G=
NCBI36
NG_011697.1:g.8144C=
NG_011697.2:g.38535C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000561028.6:c.470C=
MANE Select
ENSP00000454062.2:p.Ala157=
ENST00000396995.1:c.53C=
ENSP00000380191.1:p.Ala18=
ENST00000396997.1:c.470C=
ENSP00000380193.1:p.Ala157=
ENST00000397002.6:c.470C=
ENSP00000380197.2:p.Ala157=
ENST00000560550.1:c.53C=
ENSP00000452966.1:p.Ala18=
ENST00000561028.5:c.470C=
ENSP00000454062.1:p.Ala157=
NM_006177.3:c.470C=
NP_006168.1:p.Ala157=
XM_005267708.3:c.470C=
XP_005267765.1:p.Ala157=
XM_005267709.3:c.470C=
XP_005267766.1:p.Ala157=
XM_005267710.3:c.470C=
XP_005267767.1:p.Ala157=
XM_011536801.1:c.569C=
XP_011535103.1:p.Ala190=
XM_011536802.1:c.470C=
XP_011535104.1:p.Ala157=
XM_011536803.1:c.470C=
XP_011535105.1:p.Ala157=
XM_011536804.1:c.470C=
XP_011535106.1:p.Ala157=
XM_011536805.1:c.470C=
XP_011535107.1:p.Ala157=
XM_011536806.1:c.254C=
XP_011535108.1:p.Ala85=
NM_001354768.1:c.470C=
NP_001341697.1:p.Ala157=
NM_001354769.1:c.470C=
NP_001341698.1:p.Ala157=
NM_001354770.1:c.155C=
NP_001341699.1:p.Ala52=
NM_006177.4:c.470C=
NP_006168.1:p.Ala157=
XM_011536801.2:c.776C=
XP_011535103.2:p.Ala259=
XM_011536804.2:c.470C=
XP_011535106.1:p.Ala157=
XM_011536805.2:c.470C=
XP_011535107.1:p.Ala157=
XM_011536806.2:c.461C=
XP_011535108.2:p.Ala154=
NM_001354768.3:c.470C=
MANE Select
NP_001341697.1:p.Ala157=
NM_001354770.2:c.155C=
NP_001341699.1:p.Ala52=
NM_006177.5:c.470C=
NP_006168.1:p.Ala157=