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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.8121730G>A , CM000679.2:g.8121730G>A
GRCh38
NC_000017.10:g.8025048G>A , CM000679.1:g.8025048G>A
GRCh37
NC_000017.9:g.7965773G>A
NCBI36
NG_015807.1:g.2187C>T
NG_015816.1:g.7363C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000541682.7:c.534C>T
MANE Select
ENSP00000446205.2:p.Cys178=
ENST00000317814.8:c.519C>T
ENSP00000314774.4:p.Cys173=
ENST00000541682.6:c.534C>T
ENSP00000446205.2:p.Cys178=
NM_001165967.1:c.534C>T
NP_001159439.1:p.Cys178=
NM_032580.3:c.519C>T
NP_115969.2:p.Cys173=
XM_011524038.1:c.639C>T
XP_011522340.1:p.Cys213=
XM_011524039.1:c.630C>T
XP_011522341.1:p.Cys210=
XM_011524040.1:c.630C>T
XP_011522342.1:p.Cys210=
XM_011524041.1:c.621C>T
XP_011522343.1:p.Cys207=
XM_011524042.1:c.492C>T
XP_011522344.1:p.Cys164=
XR_934203.1:n.69+1916G>A
XM_017025232.1:c.639C>T
XP_016880721.1:p.Cys213=
XM_024451007.1:c.639C>T
XP_024306775.1:p.Cys213=
NM_001165967.2:c.534C>T
MANE Select
NP_001159439.1:p.Cys178=
NM_032580.4:c.519C>T
NP_115969.2:p.Cys173=