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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.8121735G= , CM000679.2:g.8121735G=
GRCh38
NC_000017.10:g.8025053G= , CM000679.1:g.8025053G=
GRCh37
NC_000017.9:g.7965778G=
NCBI36
NG_015807.1:g.2182C=
NG_015816.1:g.7358C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000541682.7:c.529C=
MANE Select
ENSP00000446205.2:p.Arg177=
ENST00000317814.8:c.514C=
ENSP00000314774.4:p.Arg172=
ENST00000541682.6:c.529C=
ENSP00000446205.2:p.Arg177=
NM_001165967.1:c.529C=
NP_001159439.1:p.Arg177=
NM_032580.3:c.514C=
NP_115969.2:p.Arg172=
XM_011524038.1:c.634C=
XP_011522340.1:p.Arg212=
XM_011524039.1:c.625C=
XP_011522341.1:p.Arg209=
XM_011524040.1:c.625C=
XP_011522342.1:p.Arg209=
XM_011524041.1:c.616C=
XP_011522343.1:p.Arg206=
XM_011524042.1:c.487C=
XP_011522344.1:p.Arg163=
XR_934203.1:n.69+1921G=
XM_017025232.1:c.634C=
XP_016880721.1:p.Arg212=
XM_024451007.1:c.634C=
XP_024306775.1:p.Arg212=
NM_001165967.2:c.529C=
MANE Select
NP_001159439.1:p.Arg177=
NM_032580.4:c.514C=
NP_115969.2:p.Arg172=