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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.155294514G>A , CM000663.2:g.155294514G>A
GRCh38
NC_000001.10:g.155264305G>A , CM000663.1:g.155264305G>A
GRCh37
NC_000001.9:g.153530929G>A
NCBI36
NG_011677.1:g.11921C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000342741.6:c.933C>T
MANE Select
ENSP00000339933.4:p.Ile311=
ENST00000342741.4:c.933C>T
ENSP00000339933.4:p.Ile311=
ENST00000392414.7:c.840C>T
ENSP00000376214.3:p.Ile280=
NM_000298.5:c.933C>T
NP_000289.1:p.Ile311=
NM_181871.3:c.840C>T
NP_870986.1:p.Ile280=
XM_005245266.3:c.1092C>T
XP_005245323.1:p.Ile364=
XM_006711386.2:c.741C>T
XP_006711449.1:p.Ile247=
XM_011509639.1:c.1092C>T
XP_011507941.1:p.Ile364=
XM_011509640.1:c.741C>T
XP_011507942.1:p.Ile247=
NM_000298.6:c.933C>T
MANE Select
NP_000289.1:p.Ile311=
XM_006711386.4:c.741C>T
XP_006711449.1:p.Ile247=
XM_011509640.3:c.741C>T
XP_011507942.1:p.Ile247=
XM_017001493.1:c.933C>T
XP_016856982.1:p.Ile311=
NM_181871.4:c.840C>T
NP_870986.1:p.Ile280=