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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.39244381A= , CM000666.2:g.39244381A=
GRCh38
NC_000004.11:g.39246001A= , CM000666.1:g.39246001A=
GRCh37
NC_000004.10:g.38922396A=
NCBI36
NG_031813.1:g.66978A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399820.8:c.2555A=
MANE Select
ENSP00000382717.3:p.Asn852=
ENST00000399820.7:c.2555A=
ENSP00000382717.3:p.Asn852=
ENST00000506869.5:c.*2136A=
ENSP00000424319.1:n.*2136A=
ENST00000512095.5:n.1553A=
NM_025132.3:c.2555A=
NP_079408.3:p.Asn852=
XM_011513724.1:c.2567A=
XP_011512026.1:p.Asn856=
XM_011513725.1:c.2501A=
XP_011512027.1:p.Asn834=
XM_011513726.1:c.2087A=
XP_011512028.1:p.Asn696=
XM_011513727.1:c.2087A=
XP_011512029.1:p.Asn696=
XM_011513728.1:c.2075A=
XP_011512030.1:p.Asn692=
XM_011513729.1:c.2567A=
XP_011512031.1:p.Asn856=
XR_925155.1:n.2631A=
NM_001317924.1:c.2075A=
NP_001304853.1:p.Asn692=
XM_011513725.2:c.2501A=
XP_011512027.1:p.Asn834=
XM_011513726.3:c.2087A=
XP_011512028.1:p.Asn696=
XM_017008501.1:c.2075A=
XP_016863990.1:p.Asn692=
XR_001741306.1:n.2631A=
XR_001741307.1:n.2619A=
XR_001741308.1:n.2631A=
XR_001741309.1:n.2619A=
XR_001741310.1:n.2619A=
XR_001741311.2:n.2468A=
NM_025132.4:c.2555A=
MANE Select
NP_079408.3:p.Asn852=
NM_001317924.2:c.2075A=
NP_001304853.1:p.Asn692=