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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.107634620C>G , CM000668.2:g.107634620C>G
GRCh38
NC_000006.11:g.107955824C>G , CM000668.1:g.107955824C>G
GRCh37
NC_000006.10:g.108062517C>G
NCBI36
NG_028200.1:g.149508C>G
NG_028200.2:g.149508C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000317357.10:c.1776C>G
MANE Select
ENSP00000318900.5:p.Ser592=
ENST00000317357.9:c.1776C>G
ENSP00000318900.5:p.Ser592=
NM_018013.3:c.1776C>G
NP_060483.3:p.Ser592=
XM_005267041.3:c.1929C>G
XP_005267098.1:p.Ser643=
XM_005267042.3:c.1833C>G
XP_005267099.1:p.Ser611=
XM_011535920.1:c.1929C>G
XP_011534222.1:p.Ser643=
XM_011535921.1:c.1815C>G
XP_011534223.1:p.Ser605=
XM_011535922.1:c.1188C>G
XP_011534224.1:p.Ser396=
XM_011535923.1:c.999C>G
XP_011534225.1:p.Ser333=
XM_005267041.4:c.1929C>G
XP_005267098.1:p.Ser643=
XM_005267042.4:c.1833C>G
XP_005267099.1:p.Ser611=
XM_011535920.2:c.1929C>G
XP_011534222.1:p.Ser643=
XM_011535921.2:c.1815C>G
XP_011534223.1:p.Ser605=
XM_011535923.2:c.999C>G
XP_011534225.1:p.Ser333=
XM_017010991.1:c.1329C>G
XP_016866480.1:p.Ser443=
XM_017010992.1:c.1329C>G
XP_016866481.1:p.Ser443=
XM_017010993.1:c.1329C>G
XP_016866482.1:p.Ser443=
XM_017010994.1:c.1329C>G
XP_016866483.1:p.Ser443=
NM_018013.4:c.1776C>G
MANE Select
NP_060483.3:p.Ser592=