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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_000024.10:g.12917487A>C , CM000686.2:g.12917487A>C
GRCh38
NC_000024.9:g.15029399A>C , CM000686.1:g.15029399A>C
GRCh37
NC_000024.8:g.13538793A>C
NCBI36
NG_012831.1:g.18381A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000336079.8:c.1848A>C
MANE Select
ENSP00000336725.3:p.Gly616=
ENST00000336079.7:c.1848A>C
ENSP00000336725.3:p.Gly616=
ENST00000360160.8:c.1848A>C
ENSP00000353284.4:p.Gly616=
NM_001122665.2:c.1848A>C
NP_001116137.1:p.Gly616=
NM_001302552.1:c.1839A>C
NP_001289481.1:p.Gly613=
NM_004660.4:c.1848A>C
NP_004651.2:p.Gly616=
XM_006724878.1:c.1779A>C
XP_006724941.1:p.Gly593=
NM_001122665.3:c.1848A>C
NP_001116137.1:p.Gly616=
NM_001302552.2:c.1839A>C
NP_001289481.1:p.Gly613=
NM_001324195.1:c.1779A>C
NP_001311124.1:p.Gly593=
NR_136716.1:n.2317A>C
NR_136717.1:n.2079A>C
NR_136718.1:n.2397A>C
NR_136719.1:n.2187A>C
NR_136720.1:n.2248A>C
NR_136721.1:n.1910A>C
NR_136722.1:n.1994A>C
NR_136723.1:n.2312A>C
NR_136724.1:n.2232A>C
XR_001756014.2:n.2012A>C
NM_004660.5:c.1848A>C
MANE Select
NP_004651.2:p.Gly616=
NM_001302552.3:c.1839A>C
NP_001289481.1:p.Gly613=
NM_001324195.2:c.1779A>C
NP_001311124.1:p.Gly593=
NR_136716.2:n.2235A>C
NR_136717.2:n.1997A>C
NR_136718.2:n.2315A>C
NR_136719.2:n.2105A>C
NR_136720.2:n.2166A>C
NR_136721.2:n.1900A>C