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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.14148714A= , CM000665.2:g.14148714A=
GRCh38
NC_000003.11:g.14190214A= , CM000665.1:g.14190214A=
GRCh37
NC_000003.10:g.14165215A=
NCBI36
NG_011763.1:g.34959T= , LRG_472:g.34959T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285021.12:c.2268T=
MANE Select
ENSP00000285021.8:p.Phe756=
ENST00000285021.11:c.2268T=
ENSP00000285021.7:p.Phe756=
ENST00000427795.2:n.133T=
ENST00000476581.6:c.*1721T=
ENSP00000424548.1:n.*1721T=
NM_004628.4:c.2268T= , LRG_472t1:c.2268T=
NP_004619.3:p.Phe756=
NR_027299.1:n.2248T=
XM_011534092.1:c.2268T=
XP_011532394.1:p.Phe756=
NM_001354726.1:c.1689T=
NP_001341655.1:p.Phe563=
NM_001354727.1:c.2262T=
NP_001341656.1:p.Phe754=
NM_001354729.1:c.2250T=
NP_001341658.1:p.Phe750=
NM_001354730.1:c.2022T=
NP_001341659.1:p.Phe674=
NR_148950.1:n.2211T=
NR_148951.1:n.2087T=
XR_001740256.2:n.2301T=
XR_002959580.1:n.2301T=
XR_002959581.1:n.3918T=
NM_001354727.2:c.2262T=
NP_001341656.1:p.Phe754=
NM_004628.5:c.2268T=
MANE Select
NP_004619.3:p.Phe756=
NR_148950.2:n.2140T=
NR_148951.2:n.2016T=
NM_001354726.2:c.1689T=
NP_001341655.1:p.Phe563=
NM_001354729.2:c.2250T=
NP_001341658.1:p.Phe750=
NM_001354730.2:c.2022T=
NP_001341659.1:p.Phe674=