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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.171110854T>C , CM000663.2:g.171110854T>C
GRCh38
NC_000001.10:g.171079995T>C , CM000663.1:g.171079995T>C
GRCh37
NC_000001.9:g.169346619T>C
NCBI36
NG_012690.1:g.24978T>C
Transcript Alleles
HGVS
Amino-acid Change
NM_001002294.3:c.684T>C
MANE Select
NP_001002294.1:p.Gly228=
ENST00000367755.9:c.684T>C
MANE Select
ENSP00000356729.4:p.Gly228=
NM_001002294.2:c.684T>C
NP_001002294.1:p.Gly228=
NM_001319173.1:c.624T>C
NP_001306102.1:p.Gly208=
NM_001319173.2:c.624T>C
NP_001306102.1:p.Gly208=
NM_001319174.1:c.495T>C
NP_001306103.1:p.Gly165=
NM_001319174.2:c.495T>C
NP_001306103.1:p.Gly165=
NM_006894.5:c.684T>C
NP_008825.4:p.Gly228=
NM_006894.6:c.684T>C
NP_008825.4:p.Gly228=
ENST00000367755.8:c.684T>C
ENSP00000356729.4:p.Gly228=
ENST00000479749.1:c.630T>C
ENSP00000477451.1:p.Gly210=
XM_005245044.1:c.495T>C
XP_005245101.1:p.Gly165=
XM_011509345.1:c.624T>C
XP_011507647.1:p.Gly208=
XM_011509345.3:c.624T>C
XP_011507647.1:p.Gly208=
XM_011509346.1:c.624T>C
XP_011507648.1:p.Gly208=
XM_024454365.1:c.80+2633T>C
XP_024310133.1:n.80+2633T>C