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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.189896898C= , CM000665.2:g.189896898C=
GRCh38
NC_000003.11:g.189614687C= , CM000665.1:g.189614687C=
GRCh37
NC_000003.10:g.191097381C=
NCBI36
NG_007550.1:g.270472C=
NG_007550.2:g.270472C=
NG_007550.3:g.305153C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264731.8:c.*2396C=
MANE Select
ENSP00000264731.3:n.*2396C=
ENST00000354600.10:c.*2396C=
MANE Plus Clinical
ENSP00000346614.5:n.*2396C=
ENST00000264731.7:c.*2396C=
ENSP00000264731.3:n.*2396C=
ENST00000354600.9:c.*2396C=
ENSP00000346614.5:n.*2396C=
NM_001114978.1:c.*2677C=
NP_001108450.1:n.*2677C=
NM_001114980.1:c.*2396C=
NP_001108452.1:n.*2396C=
NM_001114981.1:c.*2677C=
NP_001108453.1:n.*2677C=
NM_003722.4:c.*2396C=
NP_003713.3:n.*2396C=
XM_005247843.2:c.*2396C=
XP_005247900.1:n.*2396C=
XM_005247844.3:c.*2396C=
XP_005247901.1:n.*2396C=
XM_011513251.1:c.*2396C=
XP_011511553.1:n.*2396C=
XM_011513252.1:c.*2396C=
XP_011511554.1:n.*2396C=
XM_011513253.1:c.*2396C=
XP_011511555.1:n.*2396C=
NM_001329144.1:c.*2667C=
NP_001316073.1:n.*2667C=
NM_001329145.1:c.*2667C=
NP_001316074.1:n.*2667C=
NM_001329146.1:c.*2396C=
NP_001316075.1:n.*2396C=
NM_001329148.1:c.*2396C=
NP_001316077.1:n.*2396C=
NM_001329149.1:c.*2667C=
NP_001316078.1:n.*2667C=
NM_001329150.1:c.*2667C=
NP_001316079.1:n.*2667C=
NM_001329964.1:c.*2396C=
NP_001316893.1:n.*2396C=
NM_003722.5:c.*2396C=
MANE Select
NP_003713.3:n.*2396C=
NM_001114978.2:c.*2677C=
NP_001108450.1:n.*2677C=
NM_001114980.2:c.*2396C=
MANE Plus Clinical
NP_001108452.1:n.*2396C=
NM_001114981.2:c.*2677C=
NP_001108453.1:n.*2677C=
NM_001329144.2:c.*2667C=
NP_001316073.1:n.*2667C=
NM_001329145.2:c.*2667C=
NP_001316074.1:n.*2667C=
NM_001329146.2:c.*2396C=
NP_001316075.1:n.*2396C=
NM_001329148.2:c.*2396C=
NP_001316077.1:n.*2396C=
NM_001329149.2:c.*2667C=
NP_001316078.1:n.*2667C=
NM_001329150.2:c.*2667C=
NP_001316079.1:n.*2667C=
NM_001329964.2:c.*2396C=
NP_001316893.1:n.*2396C=