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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.14148825C= , CM000665.2:g.14148825C=
GRCh38
NC_000003.11:g.14190325C= , CM000665.1:g.14190325C=
GRCh37
NC_000003.10:g.14165326C=
NCBI36
NG_011763.1:g.34848G= , LRG_472:g.34848G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285021.12:c.2239G=
MANE Select
ENSP00000285021.8:p.Val747=
ENST00000285021.11:c.2239G=
ENSP00000285021.7:p.Val747=
ENST00000427795.2:n.104G=
ENST00000476581.6:c.*1692G=
ENSP00000424548.1:n.*1692G=
NM_004628.4:c.2239G= , LRG_472t1:c.2239G=
NP_004619.3:p.Val747=
NR_027299.1:n.2219G=
XM_011534092.1:c.2239G=
XP_011532394.1:p.Val747=
NM_001354726.1:c.1660G=
NP_001341655.1:p.Val554=
NM_001354727.1:c.2233G=
NP_001341656.1:p.Val745=
NM_001354729.1:c.2221G=
NP_001341658.1:p.Val741=
NM_001354730.1:c.1993G=
NP_001341659.1:p.Val665=
NR_148950.1:n.2182G=
NR_148951.1:n.2058G=
XR_001740256.2:n.2272G=
XR_002959580.1:n.2272G=
XR_002959581.1:n.3889G=
NM_001354727.2:c.2233G=
NP_001341656.1:p.Val745=
NM_004628.5:c.2239G=
MANE Select
NP_004619.3:p.Val747=
NR_148950.2:n.2111G=
NR_148951.2:n.1987G=
NM_001354726.2:c.1660G=
NP_001341655.1:p.Val554=
NM_001354729.2:c.2221G=
NP_001341658.1:p.Val741=
NM_001354730.2:c.1993G=
NP_001341659.1:p.Val665=