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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31616105G= , CM000668.2:g.31616105G=
GRCh38
NC_000006.11:g.31583882G= , CM000668.1:g.31583882G=
GRCh37
NC_000006.10:g.31691861G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376059.8:c.156G=
MANE Select
ENSP00000365227.3:p.Glu52=
ENST00000337917.11:c.198G=
ENSP00000338776.7:p.Glu66=
ENST00000376049.4:c.-7G=
ENSP00000365217.4:n.-7G=
ENST00000376059.7:c.156G=
ENSP00000365227.3:p.Glu52=
ENST00000466820.1:n.573G=
ENST00000497362.5:n.575G=
NM_001623.3:c.156G=
NP_001614.3:p.Glu52=
NM_004847.3:c.-7G=
NP_004838.1:n.-7G=
NM_032955.1:c.-7G=
NP_116573.1:n.-7G=
XM_005248870.3:c.156G=
XP_005248927.1:p.Glu52=
XM_005248871.1:c.219G=
XP_005248928.1:p.Glu73=
NM_001318970.1:c.-7G=
NP_001305899.1:n.-7G=
NM_001623.4:c.156G=
NP_001614.3:p.Glu52=
NM_032955.2:c.-7G=
NP_116573.1:n.-7G=
XM_005248870.4:c.156G=
XP_005248927.1:p.Glu52=
XM_017010332.1:c.-7G=
XP_016865821.1:n.-7G=
NM_001623.5:c.156G=
MANE Select
NP_001614.3:p.Glu52=
NM_001318970.2:c.-7G=
NP_001305899.1:n.-7G=
NM_032955.3:c.-7G=
NP_116573.1:n.-7G=