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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.14148835G>C , CM000665.2:g.14148835G>C
GRCh38
NC_000003.11:g.14190335G>C , CM000665.1:g.14190335G>C
GRCh37
NC_000003.10:g.14165336G>C
NCBI36
NG_011763.1:g.34838C>G , LRG_472:g.34838C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285021.12:c.2229C>G
MANE Select
ENSP00000285021.8:p.Pro743=
ENST00000285021.11:c.2229C>G
ENSP00000285021.7:p.Pro743=
ENST00000427795.2:n.94C>G
ENST00000476581.6:c.*1682C>G
ENSP00000424548.1:n.*1682C>G
NM_004628.4:c.2229C>G , LRG_472t1:c.2229C>G
NP_004619.3:p.Pro743=
NR_027299.1:n.2209C>G
XM_011534092.1:c.2229C>G
XP_011532394.1:p.Pro743=
NM_001354726.1:c.1650C>G
NP_001341655.1:p.Pro550=
NM_001354727.1:c.2223C>G
NP_001341656.1:p.Pro741=
NM_001354729.1:c.2211C>G
NP_001341658.1:p.Pro737=
NM_001354730.1:c.1983C>G
NP_001341659.1:p.Pro661=
NR_148950.1:n.2172C>G
NR_148951.1:n.2048C>G
XR_001740256.2:n.2262C>G
XR_002959580.1:n.2262C>G
XR_002959581.1:n.3879C>G
NM_001354727.2:c.2223C>G
NP_001341656.1:p.Pro741=
NM_004628.5:c.2229C>G
MANE Select
NP_004619.3:p.Pro743=
NR_148950.2:n.2101C>G
NR_148951.2:n.1977C>G
NM_001354726.2:c.1650C>G
NP_001341655.1:p.Pro550=
NM_001354729.2:c.2211C>G
NP_001341658.1:p.Pro737=
NM_001354730.2:c.1983C>G
NP_001341659.1:p.Pro661=