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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.20619305C= , CM000666.2:g.20619305C=
GRCh38
NC_000004.11:g.20620928C= , CM000666.1:g.20620928C=
GRCh37
NC_000004.10:g.20230026C=
NCBI36
NG_047105.1:g.372381C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000504154.6:c.*296C=
MANE Select
ENSP00000422591.1:n.*296C=
ENST00000504154.5:c.*296C=
ENSP00000422591.1:n.*296C=
ENST00000512993.1:c.237-1099C=
ENST00000622093.4:c.*296C=
ENSP00000482129.1:n.*296C=
NM_001289135.1:c.*296C=
NP_001276064.1:n.*296C=
NM_001289135.2:c.*296C=
NP_001276064.1:n.*296C=
NM_001289136.1:c.*296C=
NP_001276065.1:n.*296C=
NM_001289136.2:c.*296C=
NP_001276065.1:n.*296C=
NM_004787.2:c.*296C=
NP_004778.1:n.*296C=
NM_004787.3:c.*296C=
NP_004778.1:n.*296C=
XM_005248211.2:c.*296C=
XP_005248268.1:n.*296C=
XM_006713986.2:c.*296C=
XP_006714049.1:n.*296C=
XM_011513909.1:c.*296C=
XP_011512211.1:n.*296C=
XM_011513910.1:c.*296C=
XP_011512212.1:n.*296C=
XM_005248211.3:c.*296C=
XP_005248268.1:n.*296C=
XM_006713986.3:c.*296C=
XP_006714049.1:n.*296C=
XM_011513909.2:c.*296C=
XP_011512211.1:n.*296C=
XM_011513910.2:c.*296C=
XP_011512212.2:n.*296C=
XM_017008845.1:c.*296C=
XP_016864334.1:n.*296C=
NM_004787.4:c.*296C=
MANE Select
NP_004778.1:n.*296C=
NM_001289135.3:c.*296C=
NP_001276064.1:n.*296C=
NM_001289136.3:c.*296C=
NP_001276065.1:n.*296C=