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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.104825876A>G , CM000671.2:g.104825876A>G
GRCh38
NC_000009.11:g.107588157A>G , CM000671.1:g.107588157A>G
GRCh37
NC_000009.10:g.106627978A>G
NCBI36
NG_007981.1:g.107280T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374736.8:c.2349T>C
MANE Select
ENSP00000363868.3:p.Ser783=
ENST00000678995.1:c.2349T>C
ENSP00000504612.1:p.Ser783=
ENST00000374736.7:c.2349T>C
ENSP00000363868.3:p.Ser783=
ENST00000494467.1:n.522T>C
NM_005502.3:c.2349T>C
NP_005493.2:p.Ser783=
XM_005251773.1:c.2349T>C
XP_005251830.1:p.Ser783=
XM_005251776.1:c.2169T>C
XP_005251833.1:p.Ser723=
XM_011518339.1:c.2424T>C
XP_011516641.1:p.Ser808=
XM_011518340.1:c.2424T>C
XP_011516642.1:p.Ser808=
XM_011518341.1:c.2424T>C
XP_011516643.1:p.Ser808=
XM_011518342.1:c.1986T>C
XP_011516644.1:p.Ser662=
XM_011518343.1:c.2424T>C
XP_011516645.1:p.Ser808=
XM_011518344.1:c.2424T>C
XP_011516646.1:p.Ser808=
XM_005251773.3:c.2349T>C
XP_005251830.1:p.Ser783=
XM_005251776.3:c.2169T>C
XP_005251833.1:p.Ser723=
XM_011518339.3:c.2424T>C
XP_011516641.1:p.Ser808=
XM_011518340.3:c.2424T>C
XP_011516642.1:p.Ser808=
XM_011518341.3:c.2424T>C
XP_011516643.1:p.Ser808=
XM_011518342.3:c.1986T>C
XP_011516644.1:p.Ser662=
XM_011518344.2:c.2424T>C
XP_011516646.1:p.Ser808=
XM_017014378.2:c.2424T>C
XP_016869867.1:p.Ser808=
XM_017014379.2:c.2424T>C
XP_016869868.1:p.Ser808=
XM_017014380.2:c.2424T>C
XP_016869869.1:p.Ser808=
XM_017014381.2:c.2424T>C
XP_016869870.1:p.Ser808=
XM_017014382.2:c.2286T>C
XP_016869871.1:p.Ser762=
XR_001746223.1:n.2737T>C
NM_005502.4:c.2349T>C
MANE Select
NP_005493.2:p.Ser783=