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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.23814102C= , CM000666.2:g.23814102C=
GRCh38
NC_000004.11:g.23815725C= , CM000666.1:g.23815725C=
GRCh37
NC_000004.10:g.23424823C=
NCBI36
NG_028250.1:g.80976G=
NG_028250.2:g.663874G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264867.7:c.1381G=
MANE Select
ENSP00000264867.2:p.Glu461=
ENST00000264867.6:c.1381G=
ENSP00000264867.2:p.Glu461=
ENST00000506055.5:c.*596G=
ENSP00000423075.1:n.*596G=
ENST00000509702.5:n.1421G=
ENST00000613098.4:c.1000G=
ENSP00000481498.1:p.Glu334=
NM_013261.3:c.1381G=
NP_037393.1:p.Glu461=
XM_005248130.2:c.1396G=
XP_005248187.1:p.Glu466=
XM_005248131.3:c.1393G=
XP_005248188.1:p.Glu465=
XM_005248132.1:c.1372G=
XP_005248189.1:p.Glu458=
XM_005248134.3:c.1396G=
XP_005248191.1:p.Glu466=
XM_011513764.1:c.1381G=
XP_011512066.1:p.Glu461=
XM_011513765.1:c.1345G=
XP_011512067.1:p.Glu449=
XM_011513766.1:c.1276G=
XP_011512068.1:p.Glu426=
XM_011513767.1:c.1276G=
XP_011512069.1:p.Glu426=
XM_011513768.1:c.1276G=
XP_011512070.1:p.Glu426=
XM_011513769.1:c.1396G=
XP_011512071.1:p.Glu466=
XM_011513770.1:c.1000G=
XP_011512072.1:p.Glu334=
XM_011513771.1:c.1000G=
XP_011512073.1:p.Glu334=
NM_001330751.1:c.1396G=
NP_001317680.1:p.Glu466=
NM_001330752.1:c.1345G=
NP_001317681.1:p.Glu449=
NM_001330753.1:c.1000G=
NP_001317682.1:p.Glu334=
NM_001354825.1:c.1396G=
NP_001341754.1:p.Glu466=
NM_001354826.1:c.1000G=
NP_001341755.1:p.Glu334=
NM_001354827.1:c.1396G=
NP_001341756.1:p.Glu466=
NM_013261.4:c.1381G=
NP_037393.1:p.Glu461=
NR_148981.1:n.1908G=
NR_148982.1:n.1981G=
NR_148983.1:n.2134G=
NR_148984.1:n.1532G=
NR_148985.1:n.2046G=
NR_148986.1:n.2051G=
NR_148987.1:n.2133G=
XM_005248131.5:c.1393G=
XP_005248188.1:p.Glu465=
XM_005248134.4:c.1396G=
XP_005248191.1:p.Glu466=
XM_011513769.2:c.1396G=
XP_011512071.1:p.Glu466=
XM_024453878.1:c.1396G=
XP_024309646.1:p.Glu466=
NM_013261.5:c.1381G=
MANE Select
NP_037393.1:p.Glu461=
NM_001330751.2:c.1396G=
NP_001317680.1:p.Glu466=
NM_001330752.2:c.1345G=
NP_001317681.1:p.Glu449=
NM_001354825.2:c.1396G=
NP_001341754.1:p.Glu466=
NM_001354826.2:c.1000G=
NP_001341755.1:p.Glu334=
NM_001354827.2:c.1396G=
NP_001341756.1:p.Glu466=
NR_148981.2:n.1984G=
NR_148982.2:n.2057G=
NR_148983.2:n.2210G=
NR_148984.2:n.1502G=
NR_148985.2:n.2122G=
NR_148986.2:n.2127G=
NR_148987.2:n.2209G=
NM_001330753.2:c.1000G=
NP_001317682.1:p.Glu334=