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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.238397621C>T , CM000664.2:g.238397621C>T
GRCh38
NC_000002.11:g.239306262C>T , CM000664.1:g.239306262C>T
GRCh37
NC_000002.10:g.238971001C>T
NCBI36
NG_053055.1:g.82133C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373327.5:c.1852C>T
MANE Select
ENSP00000362424.4:p.Leu618=
ENST00000373327.4:c.1852C>T
ENSP00000362424.4:p.Leu618=
ENST00000391993.7:c.1654C>T
ENSP00000375851.3:p.Leu552=
ENST00000462122.1:n.863C>T
ENST00000483951.1:n.200C>T
NM_001139490.1:c.1654C>T
NP_001132962.1:p.Leu552=
NM_015650.3:c.1852C>T
NP_056465.2:p.Leu618=
XM_006712414.1:c.1651C>T
XP_006712477.1:p.Leu551=
XM_011510944.1:c.1954C>T
XP_011509246.1:p.Leu652=
XM_011510945.1:c.1915C>T
XP_011509247.1:p.Leu639=
XM_011510946.1:c.1882C>T
XP_011509248.1:p.Leu628=
XM_011510947.1:c.1822C>T
XP_011509249.1:p.Leu608=
XM_011510948.1:c.1756C>T
XP_011509250.1:p.Leu586=
XM_011510950.1:c.820C>T
XP_011509252.1:p.Leu274=
XM_006712414.2:c.1651C>T
XP_006712477.1:p.Leu551=
XM_011510944.2:c.1954C>T
XP_011509246.1:p.Leu652=
XM_011510945.2:c.1915C>T
XP_011509247.1:p.Leu639=
XM_011510946.2:c.1882C>T
XP_011509248.1:p.Leu628=
XM_011510947.2:c.1822C>T
XP_011509249.1:p.Leu608=
XM_011510948.2:c.1756C>T
XP_011509250.1:p.Leu586=
XM_011510950.2:c.820C>T
XP_011509252.1:p.Leu274=
XM_017003789.1:c.1951C>T
XP_016859278.1:p.Leu651=
XR_001738696.1:n.1680C>T
XR_001738697.1:n.1677C>T
NM_015650.4:c.1852C>T
MANE Select
NP_056465.2:p.Leu618=