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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_000007.14:g.30452171C= , CM000669.2:g.30452171C=
GRCh38
NC_000007.13:g.30491787C= , CM000669.1:g.30491787C=
GRCh37
NC_000007.12:g.30458312C=
NCBI36
NG_013025.1:g.31607G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000222823.9:c.1246G=
MANE Select
ENSP00000222823.4:p.Asp416=
ENST00000222823.8:c.1246G=
ENSP00000222823.4:p.Asp416=
ENST00000434755.5:c.1246G=
ENSP00000416946.1:p.Asp416=
NM_006092.2:c.1246G=
NP_006083.1:p.Asp416=
XM_005249568.1:c.1246G=
XP_005249625.1:p.Asp416=
XM_005249572.1:c.1246G=
XP_005249629.1:p.Asp416=
XM_005249576.1:c.502G=
XP_005249633.1:p.Asp168=
XM_006715633.2:c.1246G=
XP_006715696.1:p.Asp416=
XM_011515079.1:c.1246G=
XP_011513381.1:p.Asp416=
XM_011515080.1:c.1246G=
XP_011513382.1:p.Asp416=
XM_011515081.1:c.1246G=
XP_011513383.1:p.Asp416=
XM_011515082.1:c.1246G=
XP_011513384.1:p.Asp416=
XM_011515083.1:c.1246G=
XP_011513385.1:p.Asp416=
XM_011515084.1:c.1246G=
XP_011513386.1:p.Asp416=
XM_011515085.1:c.1246G=
XP_011513387.1:p.Asp416=
XM_011515086.1:c.1246G=
XP_011513388.1:p.Asp416=
XM_011515087.1:c.1246G=
XP_011513389.1:p.Asp416=
XM_011515088.1:c.1246G=
XP_011513390.1:p.Asp416=
XR_926907.1:n.1824G=
XR_926908.1:n.1824G=
XR_926909.1:n.1824G=
XR_926910.1:n.1824G=
NM_001354849.1:c.1246G=
NP_001341778.1:p.Asp416=
NM_006092.3:c.1246G=
NP_006083.1:p.Asp416=
NR_149002.1:n.1858G=
XM_011515080.2:c.1246G=
XP_011513382.1:p.Asp416=
XM_011515081.2:c.1246G=
XP_011513383.1:p.Asp416=
XM_011515088.2:c.1246G=
XP_011513390.1:p.Asp416=
XM_017011674.1:c.1246G=
XP_016867163.1:p.Asp416=
XR_001744529.1:n.1824G=
XR_001744530.1:n.1824G=
XR_002956406.1:n.1772G=
XR_926908.2:n.1824G=
XR_926909.2:n.1824G=
NM_006092.4:c.1246G=
MANE Select
NP_006083.1:p.Asp416=
NM_001354849.2:c.1246G=
NP_001341778.1:p.Asp416=
NR_149002.2:n.1776G=