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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91757416G= , CM000671.2:g.91757416G=
GRCh38
NC_000009.11:g.94519698G= , CM000671.1:g.94519698G=
GRCh37
NC_000009.10:g.93559519G=
NCBI36
NG_008089.1:g.197747C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375708.4:c.319C=
MANE Select
ENSP00000364860.3:p.Arg107=
ENST00000375708.3:c.319C=
ENSP00000364860.3:p.Arg107=
ENST00000375715.5:c.-102C=
ENSP00000364867.1:n.-102C=
ENST00000495386.5:n.582C=
ENST00000548585.2:n.172+13C=
ENST00000550066.5:n.787C=
NM_004560.3:c.319C=
NP_004551.2:p.Arg107=
XM_005252008.3:c.-102C=
XP_005252065.1:n.-102C=
XM_006717121.2:c.-102C=
XP_006717184.1:n.-102C=
XM_011518721.1:c.-102C=
XP_011517023.1:n.-102C=
NM_001318204.1:c.319C=
NP_001305133.1:p.Arg107=
XM_005252008.4:c.-102C=
XP_005252065.1:n.-102C=
XM_006717121.3:c.-102C=
XP_006717184.1:n.-102C=
XM_017014762.1:c.310C=
XP_016870251.1:p.Arg104=
XM_017014763.1:c.-102C=
XP_016870252.1:n.-102C=
XR_001746315.1:n.562C=
NM_004560.4:c.319C=
MANE Select
NP_004551.2:p.Arg107=
NM_001318204.2:c.319C=
NP_001305133.1:p.Arg107=