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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96121882T>G , CM000669.2:g.96121882T>G
GRCh38
NC_000007.13:g.95751194T>G , CM000669.1:g.95751194T>G
GRCh37
NC_000007.12:g.95589130T>G
NCBI36
NG_012247.1:g.205266A>C
NG_012247.2:g.205266A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1707A>C
MANE Select
ENSP00000265631.6:p.Ile569=
ENST00000265631.9:c.1707A>C
ENSP00000265631.5:p.Ile569=
ENST00000416240.6:c.1710A>C
ENSP00000400101.2:p.Ile570=
ENST00000494085.1:n.117A>C
NM_001160210.1:c.1710A>C
NP_001153682.1:p.Ile570=
NM_014251.2:c.1707A>C
NP_055066.1:p.Ile569=
NR_027662.1:n.1782A>C
XM_006715831.2:c.1740A>C
XP_006715894.1:p.Ile580=
XM_011515728.1:c.855A>C
XP_011514030.1:p.Ile285=
XM_006715831.4:c.1740A>C
XP_006715894.1:p.Ile580=
XM_017011663.1:c.1698A>C
XP_016867152.1:p.Ile566=
XM_017011664.2:c.855A>C
XP_016867153.1:p.Ile285=
XM_017011665.1:c.855A>C
XP_016867154.1:p.Ile285=
XR_001744525.2:n.1953A>C
XR_002956405.1:n.2511A>C
NM_014251.3:c.1707A>C
MANE Select
NP_055066.1:p.Ile569=
NR_027662.2:n.1733A>C
NM_001160210.2:c.1710A>C
NP_001153682.1:p.Ile570=