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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_000004.12:g.80202450G= , CM000666.2:g.80202450G=
GRCh38
NC_000004.11:g.81123604G= , CM000666.1:g.81123604G=
GRCh37
NC_000004.10:g.81342628G=
NCBI36
NG_046725.1:g.22181G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000415738.3:c.988G=
MANE Select
ENSP00000406998.2:p.Val330=
ENST00000339711.8:c.988G=
ENSP00000339764.4:p.Val330=
ENST00000415738.2:c.988G=
ENSP00000406998.2:p.Val330=
ENST00000504452.5:c.988G=
ENSP00000423985.1:p.Val330=
ENST00000515013.5:c.988G=
ENSP00000425149.1:p.Val330=
NM_001099403.1:c.988G=
NP_001092873.1:p.Val330=
NM_020226.3:c.988G=
NP_064611.3:p.Val330=
XM_005263144.2:c.991G=
XP_005263201.1:p.Val331=
XM_005263145.2:c.991G=
XP_005263202.1:p.Val331=
XM_005263146.3:c.988G=
XP_005263203.1:p.Val330=
XM_011532133.1:c.1831G=
XP_011530435.1:p.Val611=
XM_011532134.1:c.1828G=
XP_011530436.1:p.Val610=
XM_011532135.1:c.1690G=
XP_011530437.1:p.Val564=
XM_011532136.1:c.1543G=
XP_011530438.1:p.Val515=
XM_011532137.1:c.1543G=
XP_011530439.1:p.Val515=
XM_011532138.1:c.1543G=
XP_011530440.1:p.Val515=
XM_011532139.1:c.1543G=
XP_011530441.1:p.Val515=
XM_011532140.1:c.1543G=
XP_011530442.1:p.Val515=
XM_011532141.1:c.1405G=
XP_011530443.1:p.Val469=
XM_011532142.1:c.1384G=
XP_011530444.1:p.Val462=
XM_005263146.4:c.988G=
XP_005263203.1:p.Val330=
XM_011532133.2:c.1831G=
XP_011530435.1:p.Val611=
XM_011532135.2:c.1690G=
XP_011530437.1:p.Val564=
XM_011532140.2:c.1543G=
XP_011530442.1:p.Val515=
XM_011532141.3:c.1405G=
XP_011530443.1:p.Val469=
XM_017008468.1:c.1540G=
XP_016863957.1:p.Val514=
XM_017008469.1:c.1627G=
XP_016863958.1:p.Val543=
XM_017008470.1:c.1543G=
XP_016863959.1:p.Val515=
NM_001099403.2:c.988G=
MANE Select
NP_001092873.1:p.Val330=
NM_020226.4:c.988G=
NP_064611.3:p.Val330=