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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_000006.12:g.107634597C>A , CM000668.2:g.107634597C>A
GRCh38
NC_000006.11:g.107955801C>A , CM000668.1:g.107955801C>A
GRCh37
NC_000006.10:g.108062494C>A
NCBI36
NG_028200.1:g.149485C>A
NG_028200.2:g.149485C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000317357.10:c.1753C>A
MANE Select
ENSP00000318900.5:p.Arg585=
ENST00000317357.9:c.1753C>A
ENSP00000318900.5:p.Arg585=
NM_018013.3:c.1753C>A
NP_060483.3:p.Arg585=
XM_005267041.3:c.1906C>A
XP_005267098.1:p.Arg636=
XM_005267042.3:c.1810C>A
XP_005267099.1:p.Arg604=
XM_011535920.1:c.1906C>A
XP_011534222.1:p.Arg636=
XM_011535921.1:c.1792C>A
XP_011534223.1:p.Arg598=
XM_011535922.1:c.1165C>A
XP_011534224.1:p.Arg389=
XM_011535923.1:c.976C>A
XP_011534225.1:p.Arg326=
XM_005267041.4:c.1906C>A
XP_005267098.1:p.Arg636=
XM_005267042.4:c.1810C>A
XP_005267099.1:p.Arg604=
XM_011535920.2:c.1906C>A
XP_011534222.1:p.Arg636=
XM_011535921.2:c.1792C>A
XP_011534223.1:p.Arg598=
XM_011535923.2:c.976C>A
XP_011534225.1:p.Arg326=
XM_017010991.1:c.1306C>A
XP_016866480.1:p.Arg436=
XM_017010992.1:c.1306C>A
XP_016866481.1:p.Arg436=
XM_017010993.1:c.1306C>A
XP_016866482.1:p.Arg436=
XM_017010994.1:c.1306C>A
XP_016866483.1:p.Arg436=
NM_018013.4:c.1753C>A
MANE Select
NP_060483.3:p.Arg585=