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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_000007.14:g.30452628C>G , CM000669.2:g.30452628C>G
GRCh38
NC_000007.13:g.30492244C>G , CM000669.1:g.30492244C>G
GRCh37
NC_000007.12:g.30458769C>G
NCBI36
NG_013025.1:g.31150G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000222823.9:c.789G>C
MANE Select
ENSP00000222823.4:p.Arg263=
ENST00000222823.8:c.789G>C
ENSP00000222823.4:p.Arg263=
ENST00000434755.5:c.789G>C
ENSP00000416946.1:p.Arg263=
NM_006092.2:c.789G>C
NP_006083.1:p.Arg263=
XM_005249568.1:c.789G>C
XP_005249625.1:p.Arg263=
XM_005249572.1:c.789G>C
XP_005249629.1:p.Arg263=
XM_005249576.1:c.45G>C
XP_005249633.1:p.Arg15=
XM_006715633.2:c.789G>C
XP_006715696.1:p.Arg263=
XM_011515079.1:c.789G>C
XP_011513381.1:p.Arg263=
XM_011515080.1:c.789G>C
XP_011513382.1:p.Arg263=
XM_011515081.1:c.789G>C
XP_011513383.1:p.Arg263=
XM_011515082.1:c.789G>C
XP_011513384.1:p.Arg263=
XM_011515083.1:c.789G>C
XP_011513385.1:p.Arg263=
XM_011515084.1:c.789G>C
XP_011513386.1:p.Arg263=
XM_011515085.1:c.789G>C
XP_011513387.1:p.Arg263=
XM_011515086.1:c.789G>C
XP_011513388.1:p.Arg263=
XM_011515087.1:c.789G>C
XP_011513389.1:p.Arg263=
XM_011515088.1:c.789G>C
XP_011513390.1:p.Arg263=
XR_926907.1:n.1367G>C
XR_926908.1:n.1367G>C
XR_926909.1:n.1367G>C
XR_926910.1:n.1367G>C
NM_001354849.1:c.789G>C
NP_001341778.1:p.Arg263=
NM_006092.3:c.789G>C
NP_006083.1:p.Arg263=
NR_149002.1:n.1401G>C
XM_011515080.2:c.789G>C
XP_011513382.1:p.Arg263=
XM_011515081.2:c.789G>C
XP_011513383.1:p.Arg263=
XM_011515088.2:c.789G>C
XP_011513390.1:p.Arg263=
XM_017011674.1:c.789G>C
XP_016867163.1:p.Arg263=
XR_001744529.1:n.1367G>C
XR_001744530.1:n.1367G>C
XR_002956406.1:n.1315G>C
XR_926908.2:n.1367G>C
XR_926909.2:n.1367G>C
NM_006092.4:c.789G>C
MANE Select
NP_006083.1:p.Arg263=
NM_001354849.2:c.789G>C
NP_001341778.1:p.Arg263=
NR_149002.2:n.1319G>C