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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.55106779A>G , CM000666.2:g.55106779A>G
GRCh38
NC_000004.11:g.55972946A>G , CM000666.1:g.55972946A>G
GRCh37
NC_000004.10:g.55667703A>G
NCBI36
NG_012004.1:g.23817T>C
Transcript Alleles
HGVS
Amino-acid Change
NM_002253.4:c.1444T>C
MANE Select
NP_002244.1:p.Cys482Arg
ENST00000263923.5:c.1444T>C
MANE Select
ENSP00000263923.4:p.Cys482Arg
NM_002253.2:c.1444T>C
NP_002244.1:p.Cys482Arg
NM_002253.3:c.1444T>C
NP_002244.1:p.Cys482Arg
ENST00000263923.4:c.1444T>C
ENSP00000263923.4:p.Cys482Arg
ENST00000512566.1:n.1444T>C
ENST00000647068.1:n.1457T>C