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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.110340919T>C , CM000674.2:g.110340919T>C
GRCh38
NC_000012.11:g.110778724T>C , CM000674.1:g.110778724T>C
GRCh37
NC_000012.10:g.109263107T>C
NCBI36
NG_007097.2:g.64293T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000539276.7:c.2022T>C
MANE Select
ENSP00000440045.2:p.Cys674=
ENST00000308664.10:c.2022T>C
ENSP00000311186.6:p.Cys674=
ENST00000377685.9:c.*1862T>C
ENSP00000366913.4:n.*1862T>C
ENST00000539276.6:c.2022T>C
ENSP00000440045.2:p.Cys674=
ENST00000548169.2:c.1693T>C
NM_001681.3:c.2022T>C
NP_001672.1:p.Cys674=
NM_170665.3:c.2022T>C
NP_733765.1:p.Cys674=
XM_005253888.1:c.2022T>C
XP_005253945.1:p.Cys674=
XM_011538402.1:c.2022T>C
XP_011536704.1:p.Cys674=
XM_011538403.1:c.2022T>C
XP_011536705.1:p.Cys674=
XR_243009.1:n.2028T>C
XM_005253888.3:c.2022T>C
XP_005253945.1:p.Cys674=
XM_011538402.3:c.2022T>C
XP_011536704.1:p.Cys674=
XR_002957329.1:n.2028T>C
XR_243009.3:n.2028T>C
NM_170665.4:c.2022T>C
MANE Select
NP_733765.1:p.Cys674=
NM_001681.4:c.2022T>C
NP_001672.1:p.Cys674=