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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.91757393T>C , CM000671.2:g.91757393T>C
GRCh38
NC_000009.11:g.94519675T>C , CM000671.1:g.94519675T>C
GRCh37
NC_000009.10:g.93559496T>C
NCBI36
NG_008089.1:g.197770A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375708.4:c.342A>G
MANE Select
ENSP00000364860.3:p.Thr114=
ENST00000375708.3:c.342A>G
ENSP00000364860.3:p.Thr114=
ENST00000375715.5:c.-79A>G
ENSP00000364867.1:n.-79A>G
ENST00000495386.5:n.605A>G
ENST00000548585.2:n.172+36A>G
ENST00000550066.5:n.810A>G
NM_004560.3:c.342A>G
NP_004551.2:p.Thr114=
XM_005252008.3:c.-79A>G
XP_005252065.1:n.-79A>G
XM_006717121.2:c.-79A>G
XP_006717184.1:n.-79A>G
XM_011518721.1:c.-79A>G
XP_011517023.1:n.-79A>G
NM_001318204.1:c.342A>G
NP_001305133.1:p.Thr114=
XM_005252008.4:c.-79A>G
XP_005252065.1:n.-79A>G
XM_006717121.3:c.-79A>G
XP_006717184.1:n.-79A>G
XM_017014762.1:c.333A>G
XP_016870251.1:p.Thr111=
XM_017014763.1:c.-79A>G
XP_016870252.1:n.-79A>G
XR_001746315.1:n.585A>G
NM_004560.4:c.342A>G
MANE Select
NP_004551.2:p.Thr114=
NM_001318204.2:c.342A>G
NP_001305133.1:p.Thr114=