×
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.96121840A= , CM000669.2:g.96121840A=
GRCh38
NC_000007.13:g.95751152A= , CM000669.1:g.95751152A=
GRCh37
NC_000007.12:g.95589088A=
NCBI36
NG_012247.1:g.205308T=
NG_012247.2:g.205308T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000265631.10:c.1749T=
MANE Select
ENSP00000265631.6:p.Gly583=
ENST00000265631.9:c.1749T=
ENSP00000265631.5:p.Gly583=
ENST00000416240.6:c.1752T=
ENSP00000400101.2:p.Gly584=
ENST00000494085.1:n.159T=
NM_001160210.1:c.1752T=
NP_001153682.1:p.Gly584=
NM_014251.2:c.1749T=
NP_055066.1:p.Gly583=
NR_027662.1:n.1824T=
XM_006715831.2:c.1782T=
XP_006715894.1:p.Gly594=
XM_011515728.1:c.897T=
XP_011514030.1:p.Gly299=
XM_006715831.4:c.1782T=
XP_006715894.1:p.Gly594=
XM_017011663.1:c.1740T=
XP_016867152.1:p.Gly580=
XM_017011664.2:c.897T=
XP_016867153.1:p.Gly299=
XM_017011665.1:c.897T=
XP_016867154.1:p.Gly299=
XR_001744525.2:n.1995T=
XR_002956405.1:n.2553T=
NM_014251.3:c.1749T=
MANE Select
NP_055066.1:p.Gly583=
NR_027662.2:n.1775T=
NM_001160210.2:c.1752T=
NP_001153682.1:p.Gly584=