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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_000007.14:g.96121846T>G , CM000669.2:g.96121846T>G
GRCh38
NC_000007.13:g.95751158T>G , CM000669.1:g.95751158T>G
GRCh37
NC_000007.12:g.95589094T>G
NCBI36
NG_012247.1:g.205302A>C
NG_012247.2:g.205302A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000265631.10:c.1743A>C
MANE Select
ENSP00000265631.6:p.Gly581=
ENST00000265631.9:c.1743A>C
ENSP00000265631.5:p.Gly581=
ENST00000416240.6:c.1746A>C
ENSP00000400101.2:p.Gly582=
ENST00000494085.1:n.153A>C
NM_001160210.1:c.1746A>C
NP_001153682.1:p.Gly582=
NM_014251.2:c.1743A>C
NP_055066.1:p.Gly581=
NR_027662.1:n.1818A>C
XM_006715831.2:c.1776A>C
XP_006715894.1:p.Gly592=
XM_011515728.1:c.891A>C
XP_011514030.1:p.Gly297=
XM_006715831.4:c.1776A>C
XP_006715894.1:p.Gly592=
XM_017011663.1:c.1734A>C
XP_016867152.1:p.Gly578=
XM_017011664.2:c.891A>C
XP_016867153.1:p.Gly297=
XM_017011665.1:c.891A>C
XP_016867154.1:p.Gly297=
XR_001744525.2:n.1989A>C
XR_002956405.1:n.2547A>C
NM_014251.3:c.1743A>C
MANE Select
NP_055066.1:p.Gly581=
NR_027662.2:n.1769A>C
NM_001160210.2:c.1746A>C
NP_001153682.1:p.Gly582=