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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_000017.11:g.746336C= , CM000679.2:g.746336C=
GRCh38
NC_000017.10:g.649576C= , CM000679.1:g.649576C=
GRCh37
NC_000017.9:g.596326C=
NCBI36
NG_046938.1:g.11537G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000319004.6:c.1707G=
MANE Select
ENSP00000321706.5:p.Val569=
ENST00000319004.5:c.1707G=
ENSP00000321706.5:p.Val569=
ENST00000576778.1:c.1674G=
ENSP00000459565.1:p.Val558=
NM_015721.2:c.1707G=
NP_056536.2:p.Val569=
XM_005256667.3:c.1719G=
XP_005256724.1:p.Val573=
XM_005256668.3:c.1719G=
XP_005256725.1:p.Val573=
XM_005256670.3:c.1674G=
XP_005256727.1:p.Val558=
XM_011523910.1:c.1719G=
XP_011522212.1:p.Val573=
XM_011523911.1:c.1719G=
XP_011522213.1:p.Val573=
XM_011523912.1:c.1674G=
XP_011522214.1:p.Val558=
XM_011523913.1:c.1674G=
XP_011522215.1:p.Val558=
XM_005256667.4:c.1719G=
XP_005256724.1:p.Val573=
XM_005256670.5:c.1674G=
XP_005256727.1:p.Val558=
XM_011523910.2:c.1719G=
XP_011522212.1:p.Val573=
XM_011523911.2:c.1719G=
XP_011522213.1:p.Val573=
XM_011523912.2:c.1674G=
XP_011522214.1:p.Val558=
XM_011523913.2:c.1674G=
XP_011522215.1:p.Val558=
XM_017024709.1:c.1719G=
XP_016880198.1:p.Val573=
NM_015721.3:c.1707G=
MANE Select
NP_056536.2:p.Val569=