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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_000011.10:g.77214704C= , CM000673.2:g.77214704C=
GRCh38
NC_000011.9:g.76925749C= , CM000673.1:g.76925749C=
GRCh37
NC_000011.8:g.76603397C=
NCBI36
NG_009086.1:g.91440C=
NG_009086.2:g.91459C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000409709.9:c.*8C=
MANE Select
ENSP00000386331.3:n.*8C=
ENST00000670577.1:c.4457C=
ENST00000409619.6:c.*8C=
ENSP00000386635.2:n.*8C=
ENST00000409709.7:c.*8C=
ENSP00000386331.3:n.*8C=
ENST00000458169.2:c.4082C=
ENSP00000417017.2:n.4082C=
ENST00000458637.6:c.*8C=
ENSP00000392185.2:n.*8C=
ENST00000481328.7:n.5206C=
ENST00000605744.1:n.2170C=
NM_000260.3:c.*8C=
NP_000251.3:n.*8C=
NM_001127180.1:c.*8C=
NP_001120652.1:n.*8C=
XM_005274012.2:c.*8C=
XP_005274069.1:n.*8C=
XM_006718561.2:c.*8C=
XP_006718624.1:n.*8C=
XR_949941.1:n.6950C=
XM_017017780.1:c.*8C=
XP_016873269.1:n.*8C=
XM_017017784.1:c.*8C=
XP_016873273.1:n.*8C=
XM_017017788.1:c.*8C=
XP_016873277.1:n.*8C=
XR_001747885.1:n.6735C=
XR_001747887.1:n.6721C=
NM_000260.4:c.*8C=
MANE Select
NP_000251.3:n.*8C=
NM_001127180.2:c.*8C=
NP_001120652.1:n.*8C=
NM_001369365.1:c.*8C=
NP_001356294.1:n.*8C=