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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.76469721C>A , CM000679.2:g.76469721C>A
GRCh38
NC_000017.10:g.74465803C>A , CM000679.1:g.74465803C>A
GRCh37
NC_000017.9:g.71977398C>A
NCBI36
NG_015976.1:g.21371C>A
NG_032852.1:g.36707G>T , LRG_532:g.36707G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000392492.8:c.375C>A
MANE Select
ENSP00000376282.2:p.Ala125=
ENST00000250615.7:c.510C>A
ENSP00000250615.2:p.Ala170=
ENST00000392492.7:c.375C>A
ENSP00000376282.2:p.Ala125=
ENST00000587798.1:c.*152C>A
ENSP00000468239.1:n.*152C>A
NM_001088.2:c.375C>A
NP_001079.1:p.Ala125=
NM_001166579.1:c.510C>A
NP_001160051.1:p.Ala170=
NR_110548.1:n.686C>A
XM_011524415.1:c.375C>A
XP_011522717.1:p.Ala125=
XM_011524416.1:c.582C>A
XP_011522718.1:p.Ala194=
XM_011524417.1:c.582C>A
XP_011522719.1:p.Ala194=
XM_011524418.1:c.582C>A
XP_011522720.1:p.Ala194=
XM_011524419.1:c.582C>A
XP_011522721.1:p.Ala194=
XM_011524420.1:c.582C>A
XP_011522722.1:p.Ala194=
XM_011524421.1:c.582C>A
XP_011522723.1:p.Ala194=
XM_011524422.1:c.465C>A
XP_011522724.1:p.Ala155=
XM_011524423.1:c.375C>A
XP_011522725.1:p.Ala125=
XM_017024259.1:c.489C>A
XP_016879748.1:p.Ala163=
NM_001088.3:c.375C>A
MANE Select
NP_001079.1:p.Ala125=
NR_110548.2:n.631C>A
NM_001166579.2:c.510C>A
NP_001160051.1:p.Ala170=