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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_000001.11:g.223112114T>G , CM000663.2:g.223112114T>G
GRCh38
NC_000001.10:g.223285456T>G , CM000663.1:g.223285456T>G
GRCh37
NC_000001.9:g.221352079T>G
NCBI36
NG_016244.1:g.36169A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000642603.2:c.918A>C
MANE Select
ENSP00000496355.1:p.Arg306=
ENST00000645434.1:c.918A>C
ENSP00000493892.1:p.Arg306=
ENST00000366881.5:c.918A>C
ENSP00000355846.1:p.Arg306=
ENST00000540964.5:c.918A>C
ENSP00000440643.1:p.Arg306=
NM_003268.5:c.918A>C
NP_003259.2:p.Arg306=
XM_005273241.3:c.918A>C
XP_005273298.2:p.Arg306=
XM_005273242.3:c.918A>C
XP_005273299.2:p.Arg306=
XM_005273243.3:c.918A>C
XP_005273300.2:p.Arg306=
XM_006711504.2:c.918A>C
XP_006711567.1:p.Arg306=
XM_006711505.2:c.918A>C
XP_006711568.1:p.Arg306=
XM_006711506.2:c.918A>C
XP_006711569.1:p.Arg306=
XM_011509937.1:c.918A>C
XP_011508239.1:p.Arg306=
XM_005273241.4:c.918A>C
XP_005273298.2:p.Arg306=
XM_005273242.4:c.918A>C
XP_005273299.2:p.Arg306=
XM_005273243.4:c.918A>C
XP_005273300.2:p.Arg306=
XM_006711504.3:c.918A>C
XP_006711567.1:p.Arg306=
XM_006711505.3:c.918A>C
XP_006711568.1:p.Arg306=
XM_006711506.3:c.918A>C
XP_006711569.1:p.Arg306=
XM_011509937.2:c.918A>C
XP_011508239.1:p.Arg306=
XM_017002208.1:c.918A>C
XP_016857697.1:p.Arg306=
NM_003268.6:c.918A>C
MANE Select
NP_003259.2:p.Arg306=