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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.12917490C>T , CM000686.2:g.12917490C>T
GRCh38
NC_000024.9:g.15029402C>T , CM000686.1:g.15029402C>T
GRCh37
NC_000024.8:g.13538796C>T
NCBI36
NG_012831.1:g.18384C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000336079.8:c.1851C>T
MANE Select
ENSP00000336725.3:p.Ser617=
ENST00000336079.7:c.1851C>T
ENSP00000336725.3:p.Ser617=
ENST00000360160.8:c.1851C>T
ENSP00000353284.4:p.Ser617=
NM_001122665.2:c.1851C>T
NP_001116137.1:p.Ser617=
NM_001302552.1:c.1842C>T
NP_001289481.1:p.Ser614=
NM_004660.4:c.1851C>T
NP_004651.2:p.Ser617=
XM_006724878.1:c.1782C>T
XP_006724941.1:p.Ser594=
NM_001122665.3:c.1851C>T
NP_001116137.1:p.Ser617=
NM_001302552.2:c.1842C>T
NP_001289481.1:p.Ser614=
NM_001324195.1:c.1782C>T
NP_001311124.1:p.Ser594=
NR_136716.1:n.2320C>T
NR_136717.1:n.2082C>T
NR_136718.1:n.2400C>T
NR_136719.1:n.2190C>T
NR_136720.1:n.2251C>T
NR_136721.1:n.1913C>T
NR_136722.1:n.1997C>T
NR_136723.1:n.2315C>T
NR_136724.1:n.2235C>T
XR_001756014.2:n.2015C>T
NM_004660.5:c.1851C>T
MANE Select
NP_004651.2:p.Ser617=
NM_001302552.3:c.1842C>T
NP_001289481.1:p.Ser614=
NM_001324195.2:c.1782C>T
NP_001311124.1:p.Ser594=
NR_136716.2:n.2238C>T
NR_136717.2:n.2000C>T
NR_136718.2:n.2318C>T
NR_136719.2:n.2108C>T
NR_136720.2:n.2169C>T
NR_136721.2:n.1903C>T