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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.123284604G= , CM000665.2:g.123284604G=
GRCh38
NC_000003.11:g.123003451G= , CM000665.1:g.123003451G=
GRCh37
NC_000003.10:g.124486141G=
NCBI36
NG_033882.1:g.168942C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000466617.6:c.*4C=
ENSP00000420082.2:n.*4C=
ENST00000470367.2:c.*4C=
ENSP00000514541.1:n.*4C=
ENST00000483566.2:c.*4C=
ENSP00000420252.2:n.*4C=
ENST00000699714.1:c.*4C=
ENSP00000514539.1:n.*4C=
ENST00000699715.1:c.*4C=
ENSP00000514540.1:n.*4C=
ENST00000699716.1:c.*4C=
ENSP00000514542.1:n.*4C=
ENST00000699717.1:n.2193C=
ENST00000699718.1:c.3865C=
ENSP00000514543.1:n.3865C=
ENST00000462833.6:c.*4C=
MANE Select
ENSP00000419361.1:n.*4C=
ENST00000309879.9:c.*4C=
ENSP00000308685.5:n.*4C=
ENST00000462833.5:c.*4C=
ENSP00000419361.1:n.*4C=
ENST00000478092.1:n.560C=
ENST00000491190.5:c.*4C=
ENSP00000418537.1:n.*4C=
NM_001199642.1:c.*4C=
NP_001186571.1:n.*4C=
NM_183357.2:c.3790C=
NP_899200.1:n.3790C=
XM_005247077.2:c.*4C=
XP_005247134.1:n.*4C=
XM_005247078.1:c.*4C=
XP_005247135.1:n.*4C=
XM_006713483.1:c.*4C=
XP_006713546.1:n.*4C=
XM_006713484.1:c.*4C=
XP_006713547.1:n.*4C=
XM_011512359.1:c.*4C=
XP_011510661.1:n.*4C=
XM_011512360.1:c.*4C=
XP_011510662.1:n.*4C=
XM_011512361.1:c.*4C=
XP_011510663.1:n.*4C=
XM_005247077.4:c.*4C=
XP_005247134.1:n.*4C=
XM_011512359.2:c.*4C=
XP_011510661.1:n.*4C=
XM_011512360.3:c.*4C=
XP_011510662.1:n.*4C=
XM_017005638.1:c.*4C=
XP_016861127.1:n.*4C=
XM_017005639.1:c.*4C=
XP_016861128.1:n.*4C=
NM_001378259.1:c.*4C=
NP_001365188.1:n.*4C=
NM_183357.3:c.*4C=
MANE Select
NP_899200.1:n.*4C=