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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.45979714A>C , CM000665.2:g.45979714A>C
GRCh38
NC_000003.11:g.46021206A>C , CM000665.1:g.46021206A>C
GRCh37
NC_000003.10:g.45996210A>C
NCBI36
NG_031955.1:g.21111T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296137.7:c.279T>G
MANE Select
ENSP00000296137.2:p.Ser93=
ENST00000296137.6:c.279T>G
ENSP00000296137.2:p.Ser93=
ENST00000535325.5:c.279T>G
ENSP00000441178.1:p.Ser93=
NM_024513.3:c.279T>G
NP_078789.2:p.Ser93=
XM_006713333.2:c.279T>G
XP_006713396.1:p.Ser93=
XM_006713334.2:c.279T>G
XP_006713397.1:p.Ser93=
XM_011534111.1:c.279T>G
XP_011532413.1:p.Ser93=
XM_011534112.1:c.279T>G
XP_011532414.1:p.Ser93=
XR_245157.1:n.494T>G
XM_006713333.3:c.279T>G
XP_006713396.1:p.Ser93=
XM_006713334.3:c.279T>G
XP_006713397.1:p.Ser93=
XM_011534111.3:c.279T>G
XP_011532413.1:p.Ser93=
XR_001740265.1:n.494T>G
NM_024513.4:c.279T>G
MANE Select
NP_078789.2:p.Ser93=
NM_001386421.1:c.279T>G
NP_001373350.1:p.Ser93=
NM_001386422.1:c.279T>G
NP_001373351.1:p.Ser93=
NM_001386423.1:c.279T>G
NP_001373352.1:p.Ser93=
NM_001386424.1:c.279T>G
NP_001373353.1:p.Ser93=
NM_001386425.1:c.279T>G
NP_001373354.1:p.Ser93=
NM_001386426.1:c.159T>G
NP_001373355.1:p.Ser53=
NM_001386427.1:c.279T>G
NP_001373356.1:p.Ser93=
NM_001386428.1:c.279T>G
NP_001373357.1:p.Ser93=
NM_001386429.1:c.279T>G
NP_001373358.1:p.Ser93=
NM_001386430.1:c.-62+5142T>G
NP_001373359.1:n.-62+5142T>G
NR_170107.1:n.494T>G