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WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled: We are investigating the periodic unresponsiveness in the Registry. Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries. This temporarily affects the API and the UI.
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.150073381A>G , CM000667.2:g.150073381A>G
GRCh38
NC_000005.9:g.149452944A>G , CM000667.1:g.149452944A>G
GRCh37
NC_000005.8:g.149433137A>G
NCBI36
NG_012303.1:g.44992T>C
NG_012303.2:g.44992T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000675795.1:c.1002T>C
MANE Select
ENSP00000501699.1:p.Phe334=
ENST00000286301.7:c.1002T>C
ENSP00000286301.3:p.Phe334=
ENST00000504875.5:c.1002T>C
ENSP00000422212.1:p.Phe334=
ENST00000543093.1:c.890-2810T>C
ENSP00000445282.1:n.890-2810T>C
NM_001288705.1:c.1002T>C
NP_001275634.1:p.Phe334=
NM_005211.3:c.1002T>C
NP_005202.2:p.Phe334=
NR_109969.1:n.1215T>C
NM_001288705.2:c.1002T>C
NP_001275634.1:p.Phe334=
NM_001349736.1:c.1002T>C
NP_001336665.1:p.Phe334=
NM_001288705.3:c.1002T>C
MANE Select
NP_001275634.1:p.Phe334=
NM_001375320.1:c.1002T>C
NP_001362249.1:p.Phe334=
NM_001375321.1:c.558T>C
NP_001362250.1:p.Phe186=
NR_164679.1:n.1058T>C
NM_001349736.2:c.1002T>C
NP_001336665.1:p.Phe334=
NM_005211.4:c.1002T>C
NP_005202.2:p.Phe334=
NR_109969.2:n.1129T>C