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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14968114G= , CM000683.2:g.14968114G=
GRCh38
NC_000021.8:g.16340435G= , CM000683.1:g.16340435G=
GRCh37
NC_000021.7:g.15262306G=
NCBI36
NG_050643.1:g.102790C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000318948.7:c.79C=
MANE Select
ENSP00000327213.4:p.His27=
ENST00000318948.6:c.79C=
ENSP00000327213.4:p.His27=
ENST00000400199.5:c.79C=
ENSP00000383060.1:p.His27=
ENST00000400202.5:c.79C=
ENSP00000383063.1:p.His27=
ENST00000411932.1:c.79C=
ENSP00000412114.1:p.His27=
NM_003489.3:c.79C=
NP_003480.2:p.His27=
XM_005261063.2:c.79C=
XP_005261120.1:p.His27=
XM_005261065.2:c.79C=
XP_005261122.1:p.His27=
XM_011529747.1:c.79C=
XP_011528049.1:p.His27=
XM_011529748.1:c.79C=
XP_011528050.1:p.His27=
XM_011529749.1:c.79C=
XP_011528051.1:p.His27=
XM_011529750.1:c.79C=
XP_011528052.1:p.His27=
XM_011529751.1:c.79C=
XP_011528053.1:p.His27=
XM_011529752.1:c.79C=
XP_011528054.1:p.His27=
XM_005261063.3:c.79C=
XP_005261120.1:p.His27=
XM_005261065.3:c.79C=
XP_005261122.1:p.His27=
XM_011529748.2:c.79C=
XP_011528050.1:p.His27=
XM_011529749.2:c.79C=
XP_011528051.1:p.His27=
XM_011529751.2:c.79C=
XP_011528053.1:p.His27=
XM_017028473.1:c.79C=
XP_016883962.1:p.His27=
XM_017028474.1:c.79C=
XP_016883963.1:p.His27=
XM_017028475.1:c.79C=
XP_016883964.1:p.His27=
XM_017028476.1:c.79C=
XP_016883965.1:p.His27=
NM_003489.4:c.79C=
MANE Select
NP_003480.2:p.His27=