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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.14148576G= , CM000665.2:g.14148576G=
GRCh38
NC_000003.11:g.14190076G= , CM000665.1:g.14190076G=
GRCh37
NC_000003.10:g.14165077G=
NCBI36
NG_011763.1:g.35097C= , LRG_472:g.35097C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285021.12:c.2406C=
MANE Select
ENSP00000285021.8:p.Gly802=
ENST00000285021.11:c.2406C=
ENSP00000285021.7:p.Gly802=
ENST00000427795.2:n.271C=
ENST00000476581.6:c.*1859C=
ENSP00000424548.1:n.*1859C=
NM_004628.4:c.2406C= , LRG_472t1:c.2406C=
NP_004619.3:p.Gly802=
NR_027299.1:n.2386C=
XM_011534092.1:c.2406C=
XP_011532394.1:p.Gly802=
NM_001354726.1:c.1827C=
NP_001341655.1:p.Gly609=
NM_001354727.1:c.2400C=
NP_001341656.1:p.Gly800=
NM_001354729.1:c.2388C=
NP_001341658.1:p.Gly796=
NM_001354730.1:c.2160C=
NP_001341659.1:p.Gly720=
NR_148950.1:n.2349C=
NR_148951.1:n.2225C=
XR_001740256.2:n.2439C=
XR_002959580.1:n.2439C=
XR_002959581.1:n.4056C=
NM_001354727.2:c.2400C=
NP_001341656.1:p.Gly800=
NM_004628.5:c.2406C=
MANE Select
NP_004619.3:p.Gly802=
NR_148950.2:n.2278C=
NR_148951.2:n.2154C=
NM_001354726.2:c.1827C=
NP_001341655.1:p.Gly609=
NM_001354729.2:c.2388C=
NP_001341658.1:p.Gly796=
NM_001354730.2:c.2160C=
NP_001341659.1:p.Gly720=