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Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.24081488G= , CM000676.2:g.24081488G=
GRCh38
NC_000014.8:g.24550697G= , CM000676.1:g.24550697G=
GRCh37
NC_000014.7:g.23620537G=
NCBI36
NG_011697.1:g.8136C=
NG_011697.2:g.38527C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000561028.6:c.462C=
MANE Select
ENSP00000454062.2:p.Arg154=
ENST00000396995.1:c.45C=
ENSP00000380191.1:p.Arg15=
ENST00000396997.1:c.462C=
ENSP00000380193.1:p.Arg154=
ENST00000397002.6:c.462C=
ENSP00000380197.2:p.Arg154=
ENST00000560550.1:c.45C=
ENSP00000452966.1:p.Arg15=
ENST00000561028.5:c.462C=
ENSP00000454062.1:p.Arg154=
NM_006177.3:c.462C=
NP_006168.1:p.Arg154=
XM_005267708.3:c.462C=
XP_005267765.1:p.Arg154=
XM_005267709.3:c.462C=
XP_005267766.1:p.Arg154=
XM_005267710.3:c.462C=
XP_005267767.1:p.Arg154=
XM_011536801.1:c.561C=
XP_011535103.1:p.Arg187=
XM_011536802.1:c.462C=
XP_011535104.1:p.Arg154=
XM_011536803.1:c.462C=
XP_011535105.1:p.Arg154=
XM_011536804.1:c.462C=
XP_011535106.1:p.Arg154=
XM_011536805.1:c.462C=
XP_011535107.1:p.Arg154=
XM_011536806.1:c.246C=
XP_011535108.1:p.Arg82=
NM_001354768.1:c.462C=
NP_001341697.1:p.Arg154=
NM_001354769.1:c.462C=
NP_001341698.1:p.Arg154=
NM_001354770.1:c.147C=
NP_001341699.1:p.Arg49=
NM_006177.4:c.462C=
NP_006168.1:p.Arg154=
XM_011536801.2:c.768C=
XP_011535103.2:p.Arg256=
XM_011536804.2:c.462C=
XP_011535106.1:p.Arg154=
XM_011536805.2:c.462C=
XP_011535107.1:p.Arg154=
XM_011536806.2:c.453C=
XP_011535108.2:p.Arg151=
NM_001354768.3:c.462C=
MANE Select
NP_001341697.1:p.Arg154=
NM_001354770.2:c.147C=
NP_001341699.1:p.Arg49=
NM_006177.5:c.462C=
NP_006168.1:p.Arg154=