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Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.32316452T= , CM000675.2:g.32316452T=
GRCh38
NC_000013.10:g.32890589T= , CM000675.1:g.32890589T=
GRCh37
NC_000013.9:g.31788589T=
NCBI36
NG_012772.3:g.5973T= , LRG_293:g.5973T=
NG_017006.1:g.503A=
NG_017006.2:g.3912A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000470094.2:c.-9T=
ENSP00000434898.2:n.-9T=
ENST00000528762.2:c.-9T=
ENSP00000433168.2:n.-9T=
ENST00000530893.7:c.-374T=
ENSP00000499438.2:n.-374T=
ENST00000665585.2:c.-9T=
ENSP00000499570.2:n.-9T=
ENST00000666593.2:c.-9T=
ENSP00000499256.2:n.-9T=
ENST00000700202.2:c.-9T=
ENSP00000514856.2:n.-9T=
ENST00000700199.1:n.116T=
ENST00000700200.1:n.116T=
ENST00000700201.1:c.-9T=
ENSP00000514855.1:n.-9T=
ENST00000380152.8:c.-9T=
MANE Select
ENSP00000369497.3:n.-9T=
ENST00000544455.6:c.-9T=
ENSP00000439902.1:n.-9T=
ENST00000680887.1:c.-9T=
ENSP00000505508.1:n.-9T=
ENST00000380152.7:c.-9T=
ENSP00000369497.3:n.-9T=
ENST00000530893.6:n.194T=
ENST00000544455.5:c.-9T=
ENSP00000439902.1:n.-9T=
NM_000059.3:c.-9T= , LRG_293t1:c.-9T=
NP_000050.2:n.-9T=
XM_011535203.1:c.-9T=
XP_011533505.1:n.-9T=
XM_011535204.1:c.-9T=
XP_011533506.1:n.-9T=
XM_011535205.1:c.-9T=
XP_011533507.1:n.-9T=
NM_000059.4:c.-9T=
MANE Select
NP_000050.3:n.-9T=