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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_000005.10:g.96785859T>C , CM000667.2:g.96785859T>C
GRCh38
NC_000005.9:g.96121563T>C , CM000667.1:g.96121563T>C
GRCh37
NC_000005.8:g.96147319T>C
NCBI36
NG_027839.1:g.33286A>G
NG_027839.2:g.155125A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000443439.7:c.1872A>G
MANE Select
ENSP00000406304.2:p.Leu624=
ENST00000296754.7:c.1872A>G
ENSP00000296754.3:p.Leu624=
ENST00000443439.6:c.1872A>G
ENSP00000406304.2:p.Leu624=
ENST00000507859.1:n.535A>G
ENST00000514604.5:n.296A>G
NM_001040458.1:c.1872A>G
NP_001035548.1:p.Leu624=
NM_001198541.1:c.1872A>G
NP_001185470.1:p.Leu624=
NM_016442.3:c.1872A>G
NP_057526.3:p.Leu624=
XM_005272015.3:c.1872A>G
XP_005272072.1:p.Leu624=
XM_005272016.3:c.1872A>G
XP_005272073.1:p.Leu624=
XM_011543480.1:c.1872A>G
XP_011541782.1:p.Leu624=
XM_011543481.1:c.1872A>G
XP_011541783.1:p.Leu624=
XM_011543482.1:c.1872A>G
XP_011541784.1:p.Leu624=
XM_011543483.1:c.1872A>G
XP_011541785.1:p.Leu624=
XM_011543484.1:c.1872A>G
XP_011541786.1:p.Leu624=
XM_011543485.1:c.1872A>G
XP_011541787.1:p.Leu624=
XM_011543486.1:c.1872A>G
XP_011541788.1:p.Leu624=
XM_011543487.1:c.1872A>G
XP_011541789.1:p.Leu624=
NM_001040458.2:c.1872A>G
NP_001035548.1:p.Leu624=
NM_001198541.2:c.1872A>G
NP_001185470.1:p.Leu624=
NM_001349244.1:c.1872A>G
NP_001336173.1:p.Leu624=
NM_016442.4:c.1872A>G
NP_057526.3:p.Leu624=
XM_005272015.5:c.1872A>G
XP_005272072.1:p.Leu624=
XM_005272016.4:c.1872A>G
XP_005272073.1:p.Leu624=
XM_011543480.2:c.1872A>G
XP_011541782.1:p.Leu624=
XM_011543481.2:c.1872A>G
XP_011541783.1:p.Leu624=
XM_011543484.2:c.1872A>G
XP_011541786.1:p.Leu624=
XM_011543485.2:c.1872A>G
XP_011541787.1:p.Leu624=
XM_011543486.3:c.1872A>G
XP_011541788.1:p.Leu624=
XM_017009581.1:c.1872A>G
XP_016865070.1:p.Leu624=
XM_017009583.2:c.777A>G
XP_016865072.1:p.Leu259=
XM_024446113.1:c.1872A>G
XP_024301881.1:p.Leu624=
XR_001742119.2:n.2010A>G
XR_001742445.1:n.3816T>C
XR_001742446.1:n.1579T>C
NM_001040458.3:c.1872A>G
MANE Select
NP_001035548.1:p.Leu624=
NM_001198541.3:c.1872A>G
NP_001185470.1:p.Leu624=
NM_001349244.2:c.1872A>G
NP_001336173.1:p.Leu624=
NM_016442.5:c.1872A>G
NP_057526.3:p.Leu624=