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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_000002.12:g.203016383G= , CM000664.2:g.203016383G=
GRCh38
NC_000002.11:g.203881106G= , CM000664.1:g.203881106G=
GRCh37
NC_000002.10:g.203589351G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000463830.2:n.343G=
ENST00000682077.1:n.345G=
ENST00000682333.1:n.343G=
ENST00000682787.1:c.-2G=
ENSP00000507858.1:n.-2G=
ENST00000683091.1:c.-2G=
ENSP00000506951.1:n.-2G=
ENST00000683927.1:n.332G=
ENST00000683969.1:c.-2G=
MANE Select
ENSP00000508055.1:n.-2G=
ENST00000449802.5:c.-2G=
ENSP00000399903.1:n.-2G=
ENST00000460416.2:n.19G=
ENST00000478884.5:n.286G=
ENST00000492870.1:n.302G=
ENST00000497505.5:n.332G=
NM_001114132.1:c.-2G=
NP_001107604.1:n.-2G=
XM_005246787.2:c.-2G=
XP_005246844.1:n.-2G=
XM_006712698.2:c.-2G=
XP_006712761.1:n.-2G=
XM_006712699.2:c.-2G=
XP_006712762.1:n.-2G=
XM_006712700.2:c.-2G=
XP_006712763.1:n.-2G=
XM_011511658.1:c.-2G=
XP_011509960.1:n.-2G=
XM_011511659.1:c.-2G=
XP_011509961.1:n.-2G=
XM_011511663.1:c.-2G=
XP_011509965.1:n.-2G=
XM_011511664.1:c.-2G=
XP_011509966.1:n.-2G=
XM_005246787.4:c.-2G=
XP_005246844.1:n.-2G=
XM_006712698.4:c.-2G=
XP_006712761.1:n.-2G=
XM_006712699.4:c.-2G=
XP_006712762.1:n.-2G=
XM_011511658.3:c.-2G=
XP_011509960.1:n.-2G=
XM_011511659.2:c.-2G=
XP_011509961.1:n.-2G=
XM_011511663.3:c.-2G=
XP_011509965.1:n.-2G=
NM_001114132.2:c.-2G=
NP_001107604.1:n.-2G=
NM_001378026.1:c.-2G=
MANE Select
NP_001364955.1:n.-2G=