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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.73420302C= , CM000666.2:g.73420302C=
GRCh38
NC_000004.11:g.74286019C= , CM000666.1:g.74286019C=
GRCh37
NC_000004.10:g.74504883C=
NCBI36
NG_009291.1:g.21048C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295897.9:c.*4C=
MANE Select
ENSP00000295897.4:n.*4C=
ENST00000295897.8:c.*4C=
ENSP00000295897.4:n.*4C=
ENST00000401494.7:c.*4C=
ENSP00000384695.3:n.*4C=
ENST00000415165.6:c.*4C=
ENSP00000401820.2:n.*4C=
ENST00000476441.6:c.*1113C=
ENSP00000423727.1:n.*1113C=
ENST00000495173.1:n.142C=
ENST00000503124.5:c.*4C=
ENSP00000421027.1:n.*4C=
ENST00000505649.5:n.1381C=
ENST00000508932.5:n.224C=
ENST00000509063.5:c.1785+663C=
ENSP00000422784.1:n.1785+663C=
ENST00000511370.1:c.1367C=
ENST00000621085.4:c.*4C=
ENSP00000483421.1:n.*4C=
ENST00000621628.4:c.*4C=
ENSP00000480485.1:n.*4C=
NM_000477.5:c.*4C=
NP_000468.1:n.*4C=
NM_000477.6:c.*4C=
NP_000468.1:n.*4C=
NM_000477.7:c.*4C=
MANE Select
NP_000468.1:n.*4C=