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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.14148820G= , CM000665.2:g.14148820G=
GRCh38
NC_000003.11:g.14190320G= , CM000665.1:g.14190320G=
GRCh37
NC_000003.10:g.14165321G=
NCBI36
NG_011763.1:g.34853C= , LRG_472:g.34853C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285021.12:c.2244C=
MANE Select
ENSP00000285021.8:p.Asp748=
ENST00000285021.11:c.2244C=
ENSP00000285021.7:p.Asp748=
ENST00000427795.2:n.109C=
ENST00000476581.6:c.*1697C=
ENSP00000424548.1:n.*1697C=
NM_004628.4:c.2244C= , LRG_472t1:c.2244C=
NP_004619.3:p.Asp748=
NR_027299.1:n.2224C=
XM_011534092.1:c.2244C=
XP_011532394.1:p.Asp748=
NM_001354726.1:c.1665C=
NP_001341655.1:p.Asp555=
NM_001354727.1:c.2238C=
NP_001341656.1:p.Asp746=
NM_001354729.1:c.2226C=
NP_001341658.1:p.Asp742=
NM_001354730.1:c.1998C=
NP_001341659.1:p.Asp666=
NR_148950.1:n.2187C=
NR_148951.1:n.2063C=
XR_001740256.2:n.2277C=
XR_002959580.1:n.2277C=
XR_002959581.1:n.3894C=
NM_001354727.2:c.2238C=
NP_001341656.1:p.Asp746=
NM_004628.5:c.2244C=
MANE Select
NP_004619.3:p.Asp748=
NR_148950.2:n.2116C=
NR_148951.2:n.1992C=
NM_001354726.2:c.1665C=
NP_001341655.1:p.Asp555=
NM_001354729.2:c.2226C=
NP_001341658.1:p.Asp742=
NM_001354730.2:c.1998C=
NP_001341659.1:p.Asp666=