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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148436856T>G , CM000666.2:g.148436856T>G
GRCh38
NC_000004.11:g.149358008T>G , CM000666.1:g.149358008T>G
GRCh37
NC_000004.10:g.149577458T>G
NCBI36
NG_013350.1:g.10665A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000358102.8:c.5A>C
MANE Select
ENSP00000350815.3:p.Glu2Ala
ENST00000342437.8:c.5A>C
ENSP00000343907.4:p.Glu2Ala
ENST00000344721.8:c.5A>C
ENSP00000341390.4:p.Glu2Ala
ENST00000358102.7:c.5A>C
ENSP00000350815.3:p.Glu2Ala
ENST00000511528.1:c.5A>C
ENSP00000421481.1:p.Glu2Ala
ENST00000512865.5:c.5A>C
ENSP00000423510.1:p.Glu2Ala
ENST00000625323.2:c.5A>C
ENSP00000486719.1:p.Glu2Ala
NM_000901.4:c.5A>C
NP_000892.2:p.Glu2Ala
NM_001166104.1:c.5A>C
NP_001159576.1:p.Glu2Ala
XM_011531975.1:c.5A>C
XP_011530277.1:p.Glu2Ala
XM_011531976.1:c.5A>C
XP_011530278.1:p.Glu2Ala
XM_011531977.1:c.5A>C
XP_011530279.1:p.Glu2Ala
XM_011531978.1:c.5A>C
XP_011530280.1:p.Glu2Ala
NM_001354819.1:c.5A>C
NP_001341748.1:p.Glu2Ala
NR_148974.1:n.368A>C
XM_011531978.2:c.5A>C
XP_011530280.1:p.Glu2Ala
NM_000901.5:c.5A>C
MANE Select
NP_000892.2:p.Glu2Ala
NM_001166104.2:c.5A>C
NP_001159576.1:p.Glu2Ala
NR_148974.2:n.262A>C