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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.39244546A= , CM000666.2:g.39244546A=
GRCh38
NC_000004.11:g.39246166A= , CM000666.1:g.39246166A=
GRCh37
NC_000004.10:g.38922561A=
NCBI36
NG_031813.1:g.67143A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399820.8:c.2639A=
MANE Select
ENSP00000382717.3:p.Lys880=
ENST00000399820.7:c.2639A=
ENSP00000382717.3:p.Lys880=
ENST00000506869.5:c.*2220A=
ENSP00000424319.1:n.*2220A=
ENST00000512095.5:n.1637A=
NM_025132.3:c.2639A=
NP_079408.3:p.Lys880=
XM_011513724.1:c.2651A=
XP_011512026.1:p.Lys884=
XM_011513725.1:c.2585A=
XP_011512027.1:p.Lys862=
XM_011513726.1:c.2171A=
XP_011512028.1:p.Lys724=
XM_011513727.1:c.2171A=
XP_011512029.1:p.Lys724=
XM_011513728.1:c.2159A=
XP_011512030.1:p.Lys720=
XM_011513729.1:c.2651A=
XP_011512031.1:p.Lys884=
XR_925155.1:n.2715A=
NM_001317924.1:c.2159A=
NP_001304853.1:p.Lys720=
XM_011513725.2:c.2585A=
XP_011512027.1:p.Lys862=
XM_011513726.3:c.2171A=
XP_011512028.1:p.Lys724=
XM_017008501.1:c.2159A=
XP_016863990.1:p.Lys720=
XR_001741306.1:n.2715A=
XR_001741307.1:n.2703A=
XR_001741308.1:n.2715A=
XR_001741309.1:n.2703A=
XR_001741310.1:n.2703A=
XR_001741311.2:n.2552A=
NM_025132.4:c.2639A=
MANE Select
NP_079408.3:p.Lys880=
NM_001317924.2:c.2159A=
NP_001304853.1:p.Lys720=