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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.91022574A= , CM000677.2:g.91022574A=
GRCh38
NC_000015.9:g.91565804A= , CM000677.1:g.91565804A=
GRCh37
NC_000015.8:g.89366808A=
NCBI36
NG_012162.1:g.5030T= , LRG_884:g.5030T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000333371.8:c.-325T=
MANE Select
ENSP00000327650.4:n.-325T=
ENST00000333371.7:c.-325T=
ENSP00000327650.3:n.-325T=
ENST00000535906.1:c.-325T=
ENSP00000444053.1:n.-325T=
ENST00000556096.6:n.30T=
ENST00000557358.1:n.23T=
NM_001289148.1:c.-325T=
NP_001276077.1:n.-325T=
NM_001289149.1:c.-536T=
NP_001276078.1:n.-536T=
NM_018668.4:c.-325T= , LRG_884t1:c.-325T=
NP_061138.3:n.-325T=
XM_005254884.2:c.-325T=
XP_005254941.1:n.-325T=
XM_005254887.1:c.-455T=
XP_005254944.1:n.-455T=
XM_005254888.2:c.-325T=
XP_005254945.1:n.-325T=
XM_011521448.1:c.-638T=
XP_011519750.1:n.-638T=
XM_017022075.2:c.-686T=
XP_016877564.1:n.-686T=
XM_017022076.1:c.-543T=
XP_016877565.1:n.-543T=
XR_001751213.2:n.12T=
NM_018668.5:c.-325T=
MANE Select
NP_061138.3:n.-325T=