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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.128911828C>T , CM000673.2:g.128911828C>T
GRCh38
NC_000011.9:g.128781723C>T , CM000673.1:g.128781723C>T
GRCh37
NC_000011.8:g.128286933C>T
NCBI36
NG_023406.2:g.25411C>T , LRG_333:g.25411C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000529694.6:c.555C>T
MANE Select
ENSP00000433295.1:p.Cys185=
ENST00000338350.4:c.555C>T
ENSP00000339960.4:p.Cys185=
ENST00000529694.5:c.555C>T
ENSP00000433295.1:p.Cys185=
ENST00000533599.1:c.555C>T
ENSP00000434266.1:p.Cys185=
NM_000890.3:c.555C>T , LRG_333t1:c.555C>T
NP_000881.3:p.Cys185=
XM_011542809.1:c.555C>T
XP_011541111.1:p.Cys185=
XM_011542810.1:c.555C>T
XP_011541112.1:p.Cys185=
NM_000890.4:c.555C>T
NP_000881.3:p.Cys185=
NM_001354169.1:c.555C>T
NP_001341098.1:p.Cys185=
XM_011542809.2:c.555C>T
XP_011541111.1:p.Cys185=
XM_011542810.3:c.555C>T
XP_011541112.1:p.Cys185=
NM_000890.5:c.555C>T
MANE Select
NP_000881.3:p.Cys185=
NM_001354169.2:c.555C>T
NP_001341098.1:p.Cys185=