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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_000002.12:g.238397462C>A , CM000664.2:g.238397462C>A
GRCh38
NC_000002.11:g.239306103C>A , CM000664.1:g.239306103C>A
GRCh37
NC_000002.10:g.238970842C>A
NCBI36
NG_053055.1:g.81974C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373327.5:c.1693C>A
MANE Select
ENSP00000362424.4:p.Arg565=
ENST00000373327.4:c.1693C>A
ENSP00000362424.4:p.Arg565=
ENST00000391993.7:c.1495C>A
ENSP00000375851.3:p.Arg499=
ENST00000462122.1:n.704C>A
ENST00000483951.1:n.41C>A
NM_001139490.1:c.1495C>A
NP_001132962.1:p.Arg499=
NM_015650.3:c.1693C>A
NP_056465.2:p.Arg565=
XM_006712414.1:c.1492C>A
XP_006712477.1:p.Arg498=
XM_011510944.1:c.1795C>A
XP_011509246.1:p.Arg599=
XM_011510945.1:c.1756C>A
XP_011509247.1:p.Arg586=
XM_011510946.1:c.1723C>A
XP_011509248.1:p.Arg575=
XM_011510947.1:c.1663C>A
XP_011509249.1:p.Arg555=
XM_011510948.1:c.1597C>A
XP_011509250.1:p.Arg533=
XM_011510950.1:c.661C>A
XP_011509252.1:p.Arg221=
XR_922902.1:n.1992C>A
XM_006712414.2:c.1492C>A
XP_006712477.1:p.Arg498=
XM_011510944.2:c.1795C>A
XP_011509246.1:p.Arg599=
XM_011510945.2:c.1756C>A
XP_011509247.1:p.Arg586=
XM_011510946.2:c.1723C>A
XP_011509248.1:p.Arg575=
XM_011510947.2:c.1663C>A
XP_011509249.1:p.Arg555=
XM_011510948.2:c.1597C>A
XP_011509250.1:p.Arg533=
XM_011510950.2:c.661C>A
XP_011509252.1:p.Arg221=
XM_017003789.1:c.1792C>A
XP_016859278.1:p.Arg598=
XR_001738696.1:n.1521C>A
XR_001738697.1:n.1518C>A
XR_922902.2:n.2055C>A
NM_015650.4:c.1693C>A
MANE Select
NP_056465.2:p.Arg565=