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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.96235459G= , CM000671.2:g.96235459G=
GRCh38
NC_000009.11:g.98997741G= , CM000671.1:g.98997741G=
GRCh37
NC_000009.10:g.98037562G=
NCBI36
NG_008157.1:g.71694C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375263.8:c.*1C=
MANE Select
ENSP00000364412.3:n.*1C=
ENST00000463517.2:n.2476C=
ENST00000464104.6:n.1872C=
ENST00000467499.6:c.*633C=
ENSP00000498077.1:n.*633C=
ENST00000494814.6:n.484C=
ENST00000643789.1:c.3226C=
ENST00000375262.3:c.*1C=
ENSP00000364411.2:n.*1C=
ENST00000375263.7:c.*1C=
ENSP00000364412.3:n.*1C=
ENST00000464104.5:n.787C=
ENST00000467499.5:n.194C=
ENST00000494814.5:n.493C=
NM_000197.1:c.*1C=
NP_000188.1:n.*1C=
XM_005251970.3:c.*1C=
XP_005252027.1:n.*1C=
XM_011518618.1:c.*1C=
XP_011516920.1:n.*1C=
XM_011518619.1:c.*1C=
XP_011516921.1:n.*1C=
XM_011518620.1:c.*1C=
XP_011516922.1:n.*1C=
NM_000197.2:c.*1C=
MANE Select
NP_000188.1:n.*1C=
XM_011518618.2:c.*1C=
XP_011516920.1:n.*1C=
XM_011518619.2:c.*1C=
XP_011516921.1:n.*1C=
XM_017014671.1:c.*1C=
XP_016870160.1:n.*1C=
XM_017014672.1:c.*1C=
XP_016870161.1:n.*1C=
XM_017014673.2:c.*1C=
XP_016870162.1:n.*1C=
XM_017014674.1:c.*1C=
XP_016870163.1:n.*1C=
XM_017014675.1:c.*1C=
XP_016870164.1:n.*1C=
XM_017014677.1:c.*1C=
XP_016870166.1:n.*1C=
XM_024447529.1:c.*1C=
XP_024303297.1:n.*1C=
XR_002956778.1:n.3406C=