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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.12917484C>A , CM000686.2:g.12917484C>A
GRCh38
NC_000024.9:g.15029396C>A , CM000686.1:g.15029396C>A
GRCh37
NC_000024.8:g.13538790C>A
NCBI36
NG_012831.1:g.18378C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000336079.8:c.1845C>A
MANE Select
ENSP00000336725.3:p.Arg615=
ENST00000336079.7:c.1845C>A
ENSP00000336725.3:p.Arg615=
ENST00000360160.8:c.1845C>A
ENSP00000353284.4:p.Arg615=
NM_001122665.2:c.1845C>A
NP_001116137.1:p.Arg615=
NM_001302552.1:c.1836C>A
NP_001289481.1:p.Arg612=
NM_004660.4:c.1845C>A
NP_004651.2:p.Arg615=
XM_006724878.1:c.1776C>A
XP_006724941.1:p.Arg592=
NM_001122665.3:c.1845C>A
NP_001116137.1:p.Arg615=
NM_001302552.2:c.1836C>A
NP_001289481.1:p.Arg612=
NM_001324195.1:c.1776C>A
NP_001311124.1:p.Arg592=
NR_136716.1:n.2314C>A
NR_136717.1:n.2076C>A
NR_136718.1:n.2394C>A
NR_136719.1:n.2184C>A
NR_136720.1:n.2245C>A
NR_136721.1:n.1907C>A
NR_136722.1:n.1991C>A
NR_136723.1:n.2309C>A
NR_136724.1:n.2229C>A
XR_001756014.2:n.2009C>A
NM_004660.5:c.1845C>A
MANE Select
NP_004651.2:p.Arg615=
NM_001302552.3:c.1836C>A
NP_001289481.1:p.Arg612=
NM_001324195.2:c.1776C>A
NP_001311124.1:p.Arg592=
NR_136716.2:n.2232C>A
NR_136717.2:n.1994C>A
NR_136718.2:n.2312C>A
NR_136719.2:n.2102C>A
NR_136720.2:n.2163C>A
NR_136721.2:n.1897C>A