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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_000009.12:g.74802098G= , CM000671.2:g.74802098G=
GRCh38
NC_000009.11:g.77417014G= , CM000671.1:g.77417014G=
GRCh37
NC_000009.10:g.76606834G=
NCBI36
NG_017036.1:g.90997C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000360774.6:c.1809C=
MANE Select
ENSP00000354006.1:p.Gly603=
ENST00000360774.5:c.1809C=
ENSP00000354006.1:p.Gly603=
ENST00000361255.7:c.1794C=
ENSP00000354962.3:p.Gly598=
ENST00000449912.6:c.1794C=
ENSP00000396672.2:p.Gly598=
NM_001177310.1:c.1794C=
NP_001170781.1:p.Gly598=
NM_001177311.1:c.1794C=
NP_001170782.1:p.Gly598=
NM_017662.4:c.1809C=
NP_060132.3:p.Gly603=
XM_011518244.1:c.1809C=
XP_011516546.1:p.Gly603=
XM_011518245.1:c.1716C=
XP_011516547.1:p.Gly572=
XM_011518246.1:c.1809C=
XP_011516548.1:p.Gly603=
XM_011518247.1:c.1809C=
XP_011516549.1:p.Gly603=
XM_011518248.1:c.1668C=
XP_011516550.1:p.Gly556=
XM_011518249.1:c.1575C=
XP_011516551.1:p.Gly525=
XM_011518250.1:c.1809C=
XP_011516552.1:p.Gly603=
XM_011518251.1:c.1080C=
XP_011516553.1:p.Gly360=
XM_011518252.1:c.1809C=
XP_011516554.1:p.Gly603=
XM_011518254.1:c.1809C=
XP_011516556.1:p.Gly603=
XM_011518255.1:c.1809C=
XP_011516557.1:p.Gly603=
XR_929716.1:n.2047C=
XR_929717.1:n.2047C=
XR_929718.1:n.2047C=
XM_011518251.2:c.1080C=
XP_011516553.1:p.Gly360=
XM_011518252.2:c.1809C=
XP_011516554.1:p.Gly603=
XM_011518255.2:c.1809C=
XP_011516557.1:p.Gly603=
XM_017014287.1:c.1575C=
XP_016869776.1:p.Gly525=
XM_017014288.1:c.1575C=
XP_016869777.1:p.Gly525=
XM_017014289.1:c.1809C=
XP_016869778.1:p.Gly603=
XR_001746185.1:n.2047C=
XR_929717.2:n.2047C=
NM_017662.5:c.1809C=
MANE Select
NP_060132.3:p.Gly603=
NM_001177310.2:c.1794C=
NP_001170781.1:p.Gly598=
NM_001177311.2:c.1794C=
NP_001170782.1:p.Gly598=