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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.85964012G>C , CM000685.2:g.85964012G>C
GRCh38
NC_000023.10:g.85219017G>C , CM000685.1:g.85219017G>C
GRCh37
NC_000023.9:g.85105673G>C
NCBI36
NG_009874.2:g.88551C>G , LRG_699:g.88551C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357749.7:c.355C>G
MANE Select
ENSP00000350386.2:p.Gln119Glu
ENST00000357749.6:c.355C>G
ENSP00000350386.2:p.Gln119Glu
ENST00000467744.2:n.126+63479C>G
NM_000390.2:c.355C>G , LRG_699t1:c.355C>G
NP_000381.1:p.Gln119Glu
XM_006724615.2:c.292C>G
XP_006724678.1:p.Gln98Glu
XM_011530839.1:c.-90C>G
XP_011529141.1:n.-90C>G
NM_000390.3:c.355C>G
NP_000381.1:p.Gln119Glu
NM_001320959.1:c.-90C>G
NP_001307888.1:n.-90C>G
NM_001362517.1:c.-90C>G
NP_001349446.1:n.-90C>G
NM_001362518.1:c.-90C>G
NP_001349447.1:n.-90C>G
NM_001362519.1:c.-90C>G
NP_001349448.1:n.-90C>G
XM_017029242.2:c.355C>G
XP_016884731.1:p.Gln119Glu
XM_017029246.1:c.-90C>G
XP_016884735.1:n.-90C>G
XM_024452331.1:c.-90C>G
XP_024308099.1:n.-90C>G
NM_000390.4:c.355C>G
MANE Select
NP_000381.1:p.Gln119Glu
NM_001362518.2:c.-90C>G
NP_001349447.1:n.-90C>G