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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.34517335G>A , CM000671.2:g.34517335G>A
GRCh38
NC_000009.11:g.34517333G>A , CM000671.1:g.34517333G>A
GRCh37
NC_000009.10:g.34507333G>A
NCBI36
NG_008127.1:g.63523G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242317.9:c.1869G>A
MANE Select
ENSP00000242317.4:p.Gln623=
ENST00000242317.8:c.1869G>A
ENSP00000242317.4:p.Gln623=
ENST00000442556.1:c.329+2596G>A
ENST00000470169.5:c.657G>A
ENST00000485580.1:n.445G>A
ENST00000614641.4:c.1881G>A
ENSP00000480538.1:p.Gln627=
NM_001281428.1:c.1881G>A
NP_001268357.1:p.Gln627=
NM_012144.3:c.1869G>A
NP_036276.1:p.Gln623=
XM_006716758.2:c.1338G>A
XP_006716821.1:p.Gln446=
XM_011517848.1:c.1623G>A
XP_011516150.1:p.Gln541=
XM_006716758.3:c.1338G>A
XP_006716821.1:p.Gln446=
XM_011517848.2:c.1623G>A
XP_011516150.1:p.Gln541=
XM_017014625.2:c.1611G>A
XP_016870114.1:p.Gln537=
XR_002956774.1:n.1972G>A
NM_012144.4:c.1869G>A
MANE Select
NP_036276.1:p.Gln623=
NM_001281428.2:c.1881G>A
NP_001268357.1:p.Gln627=