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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_000008.11:g.11758481C= , CM000670.2:g.11758481C=
GRCh38
NC_000008.10:g.11615990C= , CM000670.1:g.11615990C=
GRCh37
NC_000008.9:g.11653399C=
NCBI36
NG_008177.2:g.86563C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000622443.3:c.*6C=
ENSP00000482268.2:n.*6C=
ENST00000532059.6:c.*6C=
MANE Select
ENSP00000435712.1:n.*6C=
ENST00000335135.8:c.*6C=
ENSP00000334458.4:n.*6C=
ENST00000526021.1:n.780C=
ENST00000528712.5:c.*6C=
ENSP00000435043.1:n.*6C=
ENST00000532059.5:c.*6C=
ENSP00000435712.1:n.*6C=
ENST00000622443.2:c.1332C=
ENSP00000482268.1:n.1332C=
NM_001308093.1:c.*6C=
NP_001295022.1:n.*6C=
NM_001308094.1:c.*6C=
NP_001295023.1:n.*6C=
NM_002052.3:c.*6C=
NP_002043.2:n.*6C=
NM_002052.4:c.*6C=
NP_002043.2:n.*6C=
XM_005272385.3:c.*6C=
XP_005272442.1:n.*6C=
XM_005272386.1:c.*6C=
XP_005272443.1:n.*6C=
XM_006716248.1:c.*6C=
XP_006716311.1:n.*6C=
XM_011543817.1:c.*6C=
XP_011542119.1:n.*6C=
XM_011543818.1:c.*6C=
XP_011542120.1:n.*6C=
XM_005272385.4:c.*6C=
XP_005272442.1:n.*6C=
XM_011543817.3:c.*6C=
XP_011542119.1:n.*6C=
XM_011543818.2:c.*6C=
XP_011542120.1:n.*6C=
XM_017013312.2:c.*6C=
XP_016868801.1:n.*6C=
NM_001308093.3:c.*6C=
MANE Select
NP_001295022.1:n.*6C=
NM_001308094.2:c.*6C=
NP_001295023.1:n.*6C=
NM_001374273.1:c.*6C=
NP_001361202.1:n.*6C=
NM_001374274.1:c.*6C=
NP_001361203.1:n.*6C=
NM_002052.5:c.*6C=
NP_002043.2:n.*6C=