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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_000009.12:g.91220822T>G , CM000671.2:g.91220822T>G
GRCh38
NC_000009.11:g.93983104T>G , CM000671.1:g.93983104T>G
GRCh37
NC_000009.10:g.93022925T>G
NCBI36
NG_008017.1:g.146103A>C , LRG_449:g.146103A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.826A>C
MANE Select
ENSP00000364883.5:p.Arg276=
ENST00000303617.5:c.739A>C
ENSP00000307334.5:p.Arg247=
ENST00000375731.8:c.826A>C
ENSP00000364883.4:p.Arg276=
ENST00000473695.1:n.98A>C
NM_001306190.1:c.739A>C
NP_001293119.1:p.Arg247=
NM_001698.2:c.826A>C , LRG_449t1:c.826A>C
NP_001689.1:p.Arg276=
XM_005252066.2:c.856A>C
XP_005252123.1:p.Arg286=
XM_005252067.3:c.856A>C
XP_005252124.1:p.Arg286=
XM_005252069.3:c.856A>C
XP_005252126.1:p.Arg286=
XM_005252073.2:c.364A>C
XP_005252130.1:p.Arg122=
XM_006717150.2:c.769A>C
XP_006717213.1:p.Arg257=
XM_011518801.1:c.502A>C
XP_011517103.1:p.Arg168=
XM_011518802.1:c.499A>C
XP_011517104.1:p.Arg167=
NM_001351431.1:c.499A>C
NP_001338360.1:p.Arg167=
NM_001351432.1:c.499A>C
NP_001338361.1:p.Arg167=
NM_001351433.1:c.499A>C
NP_001338362.1:p.Arg167=
XM_005252066.3:c.856A>C
XP_005252123.1:p.Arg286=
XM_005252067.4:c.856A>C
XP_005252124.1:p.Arg286=
XM_005252069.4:c.856A>C
XP_005252126.1:p.Arg286=
XM_006717150.3:c.769A>C
XP_006717213.1:p.Arg257=
XM_017014849.1:c.826A>C
XP_016870338.1:p.Arg276=
XR_001746328.2:n.1051A>C
XR_001746329.2:n.1003A>C
NM_001698.3:c.826A>C
MANE Select
NP_001689.1:p.Arg276=
NM_001306190.2:c.739A>C
NP_001293119.1:p.Arg247=
NM_001351431.2:c.499A>C
NP_001338360.1:p.Arg167=
NM_001351432.2:c.499A>C
NP_001338361.1:p.Arg167=
NM_001351433.2:c.499A>C
NP_001338362.1:p.Arg167=