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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.50490388G>A , CM000677.2:g.50490388G>A
GRCh38
NC_000015.9:g.50782585G>A , CM000677.1:g.50782585G>A
GRCh37
NC_000015.8:g.48569877G>A
NCBI36
NG_047101.1:g.71012G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000307179.9:c.2097G>A
MANE Select
ENSP00000302239.4:p.Lys699=
ENST00000307179.8:c.2097G>A
ENSP00000302239.4:p.Lys699=
ENST00000396444.7:c.2097G>A
ENSP00000379721.3:p.Lys699=
ENST00000425032.7:c.1779G>A
ENSP00000412682.3:p.Lys593=
ENST00000561206.1:n.514G>A
NM_001128610.2:c.2097G>A
NP_001122082.1:p.Lys699=
NM_001283049.1:c.1779G>A
NP_001269978.1:p.Lys593=
NM_005154.4:c.2097G>A
NP_005145.3:p.Lys699=
XM_006720761.2:c.2097G>A
XP_006720824.1:p.Lys699=
XM_006720762.2:c.2010G>A
XP_006720825.1:p.Lys670=
XM_011522193.1:c.2097G>A
XP_011520495.1:p.Lys699=
XM_011522194.1:c.1425G>A
XP_011520496.1:p.Lys475=
XM_006720761.3:c.2097G>A
XP_006720824.1:p.Lys699=
XM_006720762.3:c.2010G>A
XP_006720825.1:p.Lys670=
XM_011522193.3:c.2097G>A
XP_011520495.1:p.Lys699=
XM_017022718.1:c.2010G>A
XP_016878207.1:p.Lys670=
XM_017022719.2:c.2010G>A
XP_016878208.1:p.Lys670=
XM_017022720.2:c.2010G>A
XP_016878209.1:p.Lys670=
XM_017022721.2:c.1527G>A
XP_016878210.1:p.Lys509=
XM_017022722.1:c.1527G>A
XP_016878211.1:p.Lys509=
XM_024450098.1:c.1527G>A
XP_024305866.1:p.Lys509=
NM_005154.5:c.2097G>A
MANE Select
NP_005145.3:p.Lys699=
NM_001128610.3:c.2097G>A
NP_001122082.1:p.Lys699=
NM_001283049.2:c.1779G>A
NP_001269978.1:p.Lys593=