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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_000009.12:g.34517362C>T , CM000671.2:g.34517362C>T
GRCh38
NC_000009.11:g.34517360C>T , CM000671.1:g.34517360C>T
GRCh37
NC_000009.10:g.34507360C>T
NCBI36
NG_008127.1:g.63550C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242317.9:c.1896C>T
MANE Select
ENSP00000242317.4:p.Leu632=
ENST00000242317.8:c.1896C>T
ENSP00000242317.4:p.Leu632=
ENST00000442556.1:c.329+2623C>T
ENST00000470169.5:c.684C>T
ENST00000485580.1:n.472C>T
ENST00000614641.4:c.1908C>T
ENSP00000480538.1:p.Leu636=
NM_001281428.1:c.1908C>T
NP_001268357.1:p.Leu636=
NM_012144.3:c.1896C>T
NP_036276.1:p.Leu632=
XM_006716758.2:c.1365C>T
XP_006716821.1:p.Leu455=
XM_011517848.1:c.1650C>T
XP_011516150.1:p.Leu550=
XM_006716758.3:c.1365C>T
XP_006716821.1:p.Leu455=
XM_011517848.2:c.1650C>T
XP_011516150.1:p.Leu550=
XM_017014625.2:c.1638C>T
XP_016870114.1:p.Leu546=
XR_002956774.1:n.1999C>T
NM_012144.4:c.1896C>T
MANE Select
NP_036276.1:p.Leu632=
NM_001281428.2:c.1908C>T
NP_001268357.1:p.Leu636=