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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.14148865A>G , CM000665.2:g.14148865A>G
GRCh38
NC_000003.11:g.14190365A>G , CM000665.1:g.14190365A>G
GRCh37
NC_000003.10:g.14165366A>G
NCBI36
NG_011763.1:g.34808T>C , LRG_472:g.34808T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285021.12:c.2199T>C
MANE Select
ENSP00000285021.8:p.Phe733=
ENST00000285021.11:c.2199T>C
ENSP00000285021.7:p.Phe733=
ENST00000427795.2:n.64T>C
ENST00000476581.6:c.*1652T>C
ENSP00000424548.1:n.*1652T>C
NM_004628.4:c.2199T>C , LRG_472t1:c.2199T>C
NP_004619.3:p.Phe733=
NR_027299.1:n.2179T>C
XM_011534092.1:c.2199T>C
XP_011532394.1:p.Phe733=
NM_001354726.1:c.1620T>C
NP_001341655.1:p.Phe540=
NM_001354727.1:c.2193T>C
NP_001341656.1:p.Phe731=
NM_001354729.1:c.2181T>C
NP_001341658.1:p.Phe727=
NM_001354730.1:c.1953T>C
NP_001341659.1:p.Phe651=
NR_148950.1:n.2142T>C
NR_148951.1:n.2018T>C
XR_001740256.2:n.2232T>C
XR_002959580.1:n.2232T>C
XR_002959581.1:n.3849T>C
NM_001354727.2:c.2193T>C
NP_001341656.1:p.Phe731=
NM_004628.5:c.2199T>C
MANE Select
NP_004619.3:p.Phe733=
NR_148950.2:n.2071T>C
NR_148951.2:n.1947T>C
NM_001354726.2:c.1620T>C
NP_001341655.1:p.Phe540=
NM_001354729.2:c.2181T>C
NP_001341658.1:p.Phe727=
NM_001354730.2:c.1953T>C
NP_001341659.1:p.Phe651=