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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.89633246C>T , CM000677.2:g.89633246C>T
GRCh38
NC_000015.9:g.90176477C>T , CM000677.1:g.90176477C>T
GRCh37
NC_000015.8:g.87977481C>T
NCBI36
NG_030338.1:g.27206G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_198525.3:c.2613G>A
MANE Select
NP_940927.2:p.Glu871=
ENST00000394412.8:c.2613G>A
MANE Select
ENSP00000377934.3:p.Glu871=
NM_198525.2:c.2613G>A
NP_940927.2:p.Glu871=
ENST00000394412.7:c.2613G>A
ENSP00000377934.3:p.Glu871=
ENST00000677187.1:n.287G>A
ENST00000696512.1:c.2736G>A
ENSP00000512678.1:p.Glu912=
XM_005254902.2:c.2613G>A
XP_005254959.1:p.Glu871=
XM_011521531.1:c.2736G>A
XP_011519833.1:p.Glu912=
XM_011521531.2:c.2736G>A
XP_011519833.1:p.Glu912=
XM_011521532.1:c.2733G>A
XP_011519834.1:p.Glu911=
XM_011521533.1:c.2733G>A
XP_011519835.1:p.Glu911=
XM_011521534.1:c.2736G>A
XP_011519836.1:p.Glu912=
XM_011521535.1:c.2736G>A
XP_011519837.1:p.Glu912=
XM_011521536.1:c.2736G>A
XP_011519838.1:p.Glu912=
XM_011521537.1:c.*8G>A
XP_011519839.1:n.*8G>A