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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_000014.9:g.103100216C= , CM000676.2:g.103100216C=
GRCh38
NC_000014.8:g.103566553C= , CM000676.1:g.103566553C=
GRCh37
NC_000014.7:g.102636306C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000687959.1:c.-4C=
ENSP00000508483.1:n.-4C=
ENST00000688303.1:c.-4C=
MANE Select
ENSP00000509130.1:n.-4C=
ENST00000380069.7:c.-4C=
ENSP00000369409.3:n.-4C=
NM_001077594.1:c.-4C=
NP_001071062.1:n.-4C=
XM_011537323.1:c.171C=
XP_011535625.1:p.Ala57=
XM_011537324.1:c.171C=
XP_011535626.1:p.Ala57=
XM_011537325.1:c.-4C=
XP_011535627.1:n.-4C=
XM_011537326.1:c.-4C=
XP_011535628.1:n.-4C=
XM_011537327.1:c.-4C=
XP_011535629.1:n.-4C=
XM_011537328.1:c.-4C=
XP_011535630.1:n.-4C=
XM_011537329.1:c.-4C=
XP_011535631.1:n.-4C=
XM_011537330.1:c.-4C=
XP_011535632.1:n.-4C=
XM_011537331.1:c.-4C=
XP_011535633.1:n.-4C=
XM_011537332.1:c.-4C=
XP_011535634.1:n.-4C=
XM_011537333.1:c.108C=
XP_011535635.1:p.Ala36=
XR_943558.1:n.726C=
XM_011537323.3:c.171C=
XP_011535625.1:p.Ala57=
XM_011537324.2:c.171C=
XP_011535626.1:p.Ala57=
XM_011537325.2:c.-4C=
XP_011535627.1:n.-4C=
XM_011537327.2:c.-4C=
XP_011535629.1:n.-4C=
XM_011537328.2:c.-4C=
XP_011535630.1:n.-4C=
XM_011537329.2:c.-4C=
XP_011535631.1:n.-4C=
XM_011537330.2:c.-4C=
XP_011535632.1:n.-4C=
XM_011537332.2:c.-4C=
XP_011535634.1:n.-4C=
XM_011537333.2:c.108C=
XP_011535635.1:p.Ala36=
XR_943558.2:n.753C=
NM_001077594.2:c.-4C=
MANE Select
NP_001071062.1:n.-4C=
NM_001394941.1:c.-4C=
NP_001381870.1:n.-4C=
NM_001394942.1:c.-4C=
NP_001381871.1:n.-4C=