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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.23165718C>A , CM000669.2:g.23165718C>A
GRCh38
NC_000007.13:g.23205337C>A , CM000669.1:g.23205337C>A
GRCh37
NC_000007.12:g.23171862C>A
NCBI36
NG_016983.1:g.64985C>A
NG_016983.2:g.64985C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000339077.10:c.957C>A
MANE Select
ENSP00000343273.4:p.Ile319=
ENST00000339077.9:c.957C>A
ENSP00000343273.4:p.Ile319=
ENST00000409689.5:c.813C>A
ENSP00000386263.1:p.Ile271=
ENST00000521082.5:c.*965C>A
ENSP00000430351.1:n.*965C>A
NM_001031710.2:c.957C>A
NP_001026880.2:p.Ile319=
NM_018846.4:c.813C>A
NP_061334.4:p.Ile271=
NR_033328.1:n.1381C>A
XM_006715753.1:c.996C>A
XP_006715816.1:p.Ile332=
XM_006715754.1:c.930C>A
XP_006715817.1:p.Ile310=
XM_006715755.1:c.930C>A
XP_006715818.1:p.Ile310=
XM_006715756.1:c.852C>A
XP_006715819.1:p.Ile284=
XM_006715753.3:c.996C>A
XP_006715816.1:p.Ile332=
XM_006715754.3:c.930C>A
XP_006715817.1:p.Ile310=
XM_006715755.3:c.930C>A
XP_006715818.1:p.Ile310=
XM_006715756.3:c.852C>A
XP_006715819.1:p.Ile284=
XM_017012439.2:c.891C>A
XP_016867928.1:p.Ile297=
NM_001031710.3:c.957C>A
MANE Select
NP_001026880.2:p.Ile319=
NM_018846.5:c.813C>A
NP_061334.4:p.Ile271=
NR_033328.2:n.1330C>A