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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.14148591A= , CM000665.2:g.14148591A=
GRCh38
NC_000003.11:g.14190091A= , CM000665.1:g.14190091A=
GRCh37
NC_000003.10:g.14165092A=
NCBI36
NG_011763.1:g.35082T= , LRG_472:g.35082T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285021.12:c.2391T=
MANE Select
ENSP00000285021.8:p.Phe797=
ENST00000285021.11:c.2391T=
ENSP00000285021.7:p.Phe797=
ENST00000427795.2:n.256T=
ENST00000476581.6:c.*1844T=
ENSP00000424548.1:n.*1844T=
NM_004628.4:c.2391T= , LRG_472t1:c.2391T=
NP_004619.3:p.Phe797=
NR_027299.1:n.2371T=
XM_011534092.1:c.2391T=
XP_011532394.1:p.Phe797=
NM_001354726.1:c.1812T=
NP_001341655.1:p.Phe604=
NM_001354727.1:c.2385T=
NP_001341656.1:p.Phe795=
NM_001354729.1:c.2373T=
NP_001341658.1:p.Phe791=
NM_001354730.1:c.2145T=
NP_001341659.1:p.Phe715=
NR_148950.1:n.2334T=
NR_148951.1:n.2210T=
XR_001740256.2:n.2424T=
XR_002959580.1:n.2424T=
XR_002959581.1:n.4041T=
NM_001354727.2:c.2385T=
NP_001341656.1:p.Phe795=
NM_004628.5:c.2391T=
MANE Select
NP_004619.3:p.Phe797=
NR_148950.2:n.2263T=
NR_148951.2:n.2139T=
NM_001354726.2:c.1812T=
NP_001341655.1:p.Phe604=
NM_001354729.2:c.2373T=
NP_001341658.1:p.Phe791=
NM_001354730.2:c.2145T=
NP_001341659.1:p.Phe715=