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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.87600179A>C , CM000669.2:g.87600179A>C
GRCh38
NC_000007.13:g.87229495A>C , CM000669.1:g.87229495A>C
GRCh37
NC_000007.12:g.87067431A>C
NCBI36
NG_011513.1:g.118070T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265724.8:c.6T>G
ENSP00000265724.3:p.Asp2Glu
ENST00000622132.5:c.6T>G
MANE Select
ENSP00000478255.1:p.Asp2Glu
ENST00000265724.7:c.6T>G
ENSP00000265724.3:p.Asp2Glu
ENST00000416177.1:c.6T>G
ENSP00000399419.1:p.Asp2Glu
ENST00000543898.5:c.6T>G
ENSP00000444095.1:p.Asp2Glu
ENST00000622132.4:c.6T>G
ENSP00000478255.1:p.Asp2Glu
NM_000927.4:c.6T>G
NP_000918.2:p.Asp2Glu
NM_001348944.1:c.6T>G
NP_001335873.1:p.Asp2Glu
NM_001348945.1:c.216T>G
NP_001335874.1:p.Asp72Glu
NM_001348946.1:c.6T>G
NP_001335875.1:p.Asp2Glu
NM_001348946.2:c.6T>G
MANE Select
NP_001335875.1:p.Asp2Glu
NM_000927.5:c.6T>G
NP_000918.2:p.Asp2Glu
NM_001348944.2:c.6T>G
NP_001335873.1:p.Asp2Glu
NM_001348945.2:c.216T>G
NP_001335874.1:p.Asp72Glu