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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.103100256C>T , CM000676.2:g.103100256C>T
GRCh38
NC_000014.8:g.103566593C>T , CM000676.1:g.103566593C>T
GRCh37
NC_000014.7:g.102636346C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000687959.1:c.37C>T
ENSP00000508483.1:p.Leu13=
ENST00000688303.1:c.37C>T
MANE Select
ENSP00000509130.1:p.Leu13=
ENST00000380069.7:c.37C>T
ENSP00000369409.3:p.Leu13=
NM_001077594.1:c.37C>T
NP_001071062.1:p.Leu13=
XM_011537323.1:c.211C>T
XP_011535625.1:p.Leu71=
XM_011537324.1:c.211C>T
XP_011535626.1:p.Leu71=
XM_011537325.1:c.37C>T
XP_011535627.1:p.Leu13=
XM_011537326.1:c.37C>T
XP_011535628.1:p.Leu13=
XM_011537327.1:c.37C>T
XP_011535629.1:p.Leu13=
XM_011537328.1:c.37C>T
XP_011535630.1:p.Leu13=
XM_011537329.1:c.37C>T
XP_011535631.1:p.Leu13=
XM_011537330.1:c.37C>T
XP_011535632.1:p.Leu13=
XM_011537331.1:c.37C>T
XP_011535633.1:p.Leu13=
XM_011537332.1:c.37C>T
XP_011535634.1:p.Leu13=
XM_011537333.1:c.148C>T
XP_011535635.1:p.Leu50=
XR_943558.1:n.766C>T
XM_011537323.3:c.211C>T
XP_011535625.1:p.Leu71=
XM_011537324.2:c.211C>T
XP_011535626.1:p.Leu71=
XM_011537325.2:c.37C>T
XP_011535627.1:p.Leu13=
XM_011537327.2:c.37C>T
XP_011535629.1:p.Leu13=
XM_011537328.2:c.37C>T
XP_011535630.1:p.Leu13=
XM_011537329.2:c.37C>T
XP_011535631.1:p.Leu13=
XM_011537330.2:c.37C>T
XP_011535632.1:p.Leu13=
XM_011537332.2:c.37C>T
XP_011535634.1:p.Leu13=
XM_011537333.2:c.148C>T
XP_011535635.1:p.Leu50=
XR_943558.2:n.793C>T
NM_001077594.2:c.37C>T
MANE Select
NP_001071062.1:p.Leu13=
NM_001394941.1:c.37C>T
NP_001381870.1:p.Leu13=
NM_001394942.1:c.37C>T
NP_001381871.1:p.Leu13=