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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_000004.12:g.186284235T>C , CM000666.2:g.186284235T>C
GRCh38
NC_000004.11:g.187205389T>C , CM000666.1:g.187205389T>C
GRCh37
NC_000004.10:g.187442383T>C
NCBI36
NG_008051.1:g.23272T>C , LRG_583:g.23272T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000403665.7:c.1279T>C
MANE Select
ENSP00000384957.2:p.Leu427=
ENST00000264692.8:c.1117T>C
ENSP00000264692.5:p.Leu373=
ENST00000403665.6:c.1279T>C
ENSP00000384957.2:p.Leu427=
NM_000128.3:c.1279T>C , LRG_583t1:c.1279T>C
NP_000119.1:p.Leu427=
XM_005262821.2:c.1282T>C
XP_005262878.1:p.Leu428=
XM_005262822.2:c.1282T>C
XP_005262879.1:p.Leu428=
XM_005262823.2:c.1012T>C
XP_005262880.1:p.Leu338=
XM_005262824.1:c.1282T>C
XP_005262881.1:p.Leu428=
XM_006714137.1:c.1234T>C
XP_006714200.1:p.Leu412=
XR_938706.1:n.1687T>C
XR_938707.1:n.1687T>C
XM_005262821.4:c.1282T>C
XP_005262878.1:p.Leu428=
XM_005262822.4:c.1282T>C
XP_005262879.1:p.Leu428=
XM_005262823.4:c.1012T>C
XP_005262880.1:p.Leu338=
XM_006714137.3:c.1234T>C
XP_006714200.1:p.Leu412=
XR_001741172.2:n.1753T>C
NM_000128.4:c.1279T>C
MANE Select
NP_000119.1:p.Leu427=