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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.11826161G= , CM000664.2:g.11826161G=
GRCh38
NC_000002.11:g.11966287G= , CM000664.1:g.11966287G=
GRCh37
NC_000002.10:g.11883738G=
NCBI36
NG_012843.2:g.153583G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000674199.1:c.*1370G=
MANE Select
ENSP00000501331.1:n.*1370G=
ENST00000256720.6:c.*1370G=
ENSP00000256720.2:n.*1370G=
ENST00000396097.5:c.*1370G=
ENSP00000379404.2:n.*1370G=
ENST00000404113.6:n.3636G=
ENST00000425416.6:c.*1370G=
ENSP00000401522.2:n.*1370G=
ENST00000475922.1:n.5080G=
NM_001261427.1:c.*1370G=
NP_001248356.1:n.*1370G=
NM_001261428.1:c.*1370G=
NP_001248357.1:n.*1370G=
NM_145693.2:c.*1370G=
NP_663731.1:n.*1370G=
XM_006711869.1:c.*1370G=
XP_006711932.1:n.*1370G=
XM_006711870.2:c.*1370G=
XP_006711933.1:n.*1370G=
XM_006711871.1:c.*1370G=
XP_006711934.1:n.*1370G=
XM_006711872.1:c.*1370G=
XP_006711935.1:n.*1370G=
XM_006711874.1:c.*1370G=
XP_006711937.1:n.*1370G=
XM_011510333.1:c.*1370G=
XP_011508635.1:n.*1370G=
XM_011510334.1:c.*1370G=
XP_011508636.1:n.*1370G=
XM_011510335.1:c.*1370G=
XP_011508637.1:n.*1370G=
XM_011510336.1:c.*1370G=
XP_011508638.1:n.*1370G=
NM_001261427.2:c.*1370G=
NP_001248356.1:n.*1370G=
NM_001261428.2:c.*1370G=
NP_001248357.1:n.*1370G=
NM_001349199.1:c.*1370G=
NP_001336128.1:n.*1370G=
NM_001349200.1:c.*1370G=
NP_001336129.1:n.*1370G=
NM_001349201.1:c.*1370G=
NP_001336130.1:n.*1370G=
NM_001349202.1:c.*1370G=
NP_001336131.1:n.*1370G=
NM_001349203.1:c.*1370G=
NP_001336132.1:n.*1370G=
NM_001349204.1:c.*1370G=
NP_001336133.1:n.*1370G=
NM_001349205.1:c.*1370G=
NP_001336134.1:n.*1370G=
NM_001349206.1:c.*1370G=
NP_001336135.1:n.*1370G=
NM_001349207.1:c.*1370G=
NP_001336136.1:n.*1370G=
NM_001349208.1:c.*1370G=
NP_001336137.1:n.*1370G=
NM_145693.3:c.*1370G=
NP_663731.1:n.*1370G=
NR_146080.1:n.4291G=
XM_006711870.4:c.*1370G=
XP_006711933.1:n.*1370G=
XM_006711872.3:c.*1370G=
XP_006711935.1:n.*1370G=
XM_011510334.3:c.*1370G=
XP_011508636.1:n.*1370G=
XM_011510335.3:c.*1370G=
XP_011508637.1:n.*1370G=
XM_011510336.3:c.*1370G=
XP_011508638.1:n.*1370G=
XM_017003623.2:c.*1370G=
XP_016859112.1:n.*1370G=
XM_017003624.2:c.*1370G=
XP_016859113.1:n.*1370G=
XM_017003625.2:c.*1370G=
XP_016859114.1:n.*1370G=
XM_017003627.2:c.*1370G=
XP_016859116.1:n.*1370G=
XM_017003628.2:c.*1370G=
XP_016859117.1:n.*1370G=
XM_024452762.1:c.*1370G=
XP_024308530.1:n.*1370G=
NM_001261428.3:c.*1370G=
NP_001248357.1:n.*1370G=
NM_001349199.2:c.*1370G=
NP_001336128.1:n.*1370G=
NM_001349200.2:c.*1370G=
NP_001336129.1:n.*1370G=
NM_001349201.2:c.*1370G=
NP_001336130.1:n.*1370G=
NM_001349202.2:c.*1370G=
NP_001336131.1:n.*1370G=
NM_001349203.2:c.*1370G=
NP_001336132.1:n.*1370G=
NM_001349204.2:c.*1370G=
NP_001336133.1:n.*1370G=
NM_001349206.2:c.*1370G=
MANE Select
NP_001336135.1:n.*1370G=
NM_001349207.2:c.*1370G=
NP_001336136.1:n.*1370G=
NM_001349208.2:c.*1370G=
NP_001336137.1:n.*1370G=
NM_145693.4:c.*1370G=
NP_663731.1:n.*1370G=
NR_146080.2:n.4244G=
NM_001261427.3:c.*1370G=
NP_001248356.1:n.*1370G=
NM_001349205.2:c.*1370G=
NP_001336134.1:n.*1370G=