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Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.94378316G= , CM000676.2:g.94378316G=
GRCh38
NC_000014.8:g.94844653G= , CM000676.1:g.94844653G=
GRCh37
NC_000014.7:g.93914406G=
NCBI36
NG_008290.1:g.17377C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000393087.9:c.*133C=
MANE Select
ENSP00000376802.4:n.*133C=
ENST00000355814.8:c.*133C=
ENSP00000348068.4:n.*133C=
ENST00000437397.5:c.*133C=
ENSP00000408474.1:n.*133C=
ENST00000440909.5:c.*133C=
ENSP00000390299.1:n.*133C=
ENST00000448921.5:c.*133C=
ENSP00000416066.1:n.*133C=
NM_000295.4:c.*133C=
NP_000286.3:n.*133C=
NM_001002235.2:c.*133C=
NP_001002235.1:n.*133C=
NM_001002236.2:c.*133C=
NP_001002236.1:n.*133C=
NM_001127700.1:c.*133C=
NP_001121172.1:n.*133C=
NM_001127701.1:c.*133C=
NP_001121173.1:n.*133C=
NM_001127702.1:c.*133C=
NP_001121174.1:n.*133C=
NM_001127703.1:c.*133C=
NP_001121175.1:n.*133C=
NM_001127704.1:c.*133C=
NP_001121176.1:n.*133C=
NM_001127705.1:c.*133C=
NP_001121177.1:n.*133C=
NM_001127706.1:c.*133C=
NP_001121178.1:n.*133C=
NM_001127707.1:c.*133C=
NP_001121179.1:n.*133C=
NM_000295.5:c.*133C=
MANE Select
NP_000286.3:n.*133C=
NM_001002235.3:c.*133C=
NP_001002235.1:n.*133C=
NM_001002236.3:c.*133C=
NP_001002236.1:n.*133C=
NM_001127700.2:c.*133C=
NP_001121172.1:n.*133C=
NM_001127701.2:c.*133C=
NP_001121173.1:n.*133C=
NM_001127702.2:c.*133C=
NP_001121174.1:n.*133C=
NM_001127703.2:c.*133C=
NP_001121175.1:n.*133C=
NM_001127704.2:c.*133C=
NP_001121176.1:n.*133C=
NM_001127705.2:c.*133C=
NP_001121177.1:n.*133C=
NM_001127706.2:c.*133C=
NP_001121178.1:n.*133C=
NM_001127707.2:c.*133C=
NP_001121179.1:n.*133C=