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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.108440129A>G , CM000685.2:g.108440129A>G
GRCh38
NC_000023.10:g.107683359A>G , CM000685.1:g.107683359A>G
GRCh37
NC_000023.9:g.107570015A>G
NCBI36
NG_011977.1:g.5206A>G
NG_012059.2:g.4346T>C
NG_011977.2:g.5206A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000328300.11:c.4A>G
MANE Select
ENSP00000331902.7:p.Lys2Glu
ENST00000361603.7:c.4A>G
ENSP00000354505.2:p.Lys2Glu
ENST00000642185.1:c.4A>G
ENSP00000495101.1:p.Lys2Glu
ENST00000328300.10:c.4A>G
ENSP00000331902.6:p.Lys2Glu
ENST00000361603.6:c.4A>G
ENSP00000354505.2:p.Lys2Glu
ENST00000470339.1:n.188A>G
ENST00000477429.1:n.286A>G
NM_000495.4:c.4A>G
NP_000486.1:p.Lys2Glu
NM_033380.2:c.4A>G
NP_203699.1:p.Lys2Glu
XM_005262070.2:c.4A>G
XP_005262127.1:p.Lys2Glu
XM_005262072.3:c.4A>G
XP_005262129.1:p.Lys2Glu
XM_006724616.2:c.4A>G
XP_006724679.1:p.Lys2Glu
XM_011530850.1:c.4A>G
XP_011529152.1:p.Lys2Glu
NM_000495.5:c.4A>G
NP_000486.1:p.Lys2Glu
NM_033380.3:c.4A>G
MANE Select
NP_203699.1:p.Lys2Glu