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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_000012.12:g.13564484C>A , CM000674.2:g.13564484C>A
GRCh38
NC_000012.11:g.13717418C>A , CM000674.1:g.13717418C>A
GRCh37
NC_000012.10:g.13608685C>A
NCBI36
NG_031854.1:g.420605G>T
NG_031854.2:g.422529G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000609686.4:c.2754G>T
MANE Select
ENSP00000477455.1:p.Pro918=
ENST00000637214.1:c.69+44119G>T
ENSP00000489997.1:n.69+44119G>T
ENST00000609686.3:c.2754G>T
ENSP00000477455.1:p.Pro918=
ENST00000628166.1:n.1014G>T
NM_000834.3:c.2754G>T
NP_000825.2:p.Pro918=
XM_005253351.2:c.540G>T
XP_005253408.1:p.Pro180=
XM_011520628.1:c.2754G>T
XP_011518930.1:p.Pro918=
XM_011520629.1:c.2754G>T
XP_011518931.1:p.Pro918=
XM_011520630.1:c.2754G>T
XP_011518932.1:p.Pro918=
NM_000834.4:c.2754G>T
NP_000825.2:p.Pro918=
XM_005253351.3:c.540G>T
XP_005253408.1:p.Pro180=
XM_011520628.2:c.2754G>T
XP_011518930.1:p.Pro918=
XM_011520629.2:c.2754G>T
XP_011518931.1:p.Pro918=
XM_017019219.2:c.2754G>T
XP_016874708.1:p.Pro918=
NM_000834.5:c.2754G>T
MANE Select
NP_000825.2:p.Pro918=