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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.23165745T>C , CM000669.2:g.23165745T>C
GRCh38
NC_000007.13:g.23205364T>C , CM000669.1:g.23205364T>C
GRCh37
NC_000007.12:g.23171889T>C
NCBI36
NG_016983.1:g.65012T>C
NG_016983.2:g.65012T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000339077.10:c.984T>C
MANE Select
ENSP00000343273.4:p.Asp328=
ENST00000339077.9:c.984T>C
ENSP00000343273.4:p.Asp328=
ENST00000409689.5:c.840T>C
ENSP00000386263.1:p.Asp280=
ENST00000521082.5:c.*992T>C
ENSP00000430351.1:n.*992T>C
NM_001031710.2:c.984T>C
NP_001026880.2:p.Asp328=
NM_018846.4:c.840T>C
NP_061334.4:p.Asp280=
NR_033328.1:n.1408T>C
XM_006715753.1:c.1023T>C
XP_006715816.1:p.Asp341=
XM_006715754.1:c.957T>C
XP_006715817.1:p.Asp319=
XM_006715755.1:c.957T>C
XP_006715818.1:p.Asp319=
XM_006715756.1:c.879T>C
XP_006715819.1:p.Asp293=
XM_006715753.3:c.1023T>C
XP_006715816.1:p.Asp341=
XM_006715754.3:c.957T>C
XP_006715817.1:p.Asp319=
XM_006715755.3:c.957T>C
XP_006715818.1:p.Asp319=
XM_006715756.3:c.879T>C
XP_006715819.1:p.Asp293=
XM_017012439.2:c.918T>C
XP_016867928.1:p.Asp306=
NM_001031710.3:c.984T>C
MANE Select
NP_001026880.2:p.Asp328=
NM_018846.5:c.840T>C
NP_061334.4:p.Asp280=
NR_033328.2:n.1357T>C