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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_000012.12:g.14500999C= , CM000674.2:g.14500999C=
GRCh38
NC_000012.11:g.14653933C= , CM000674.1:g.14653933C=
GRCh37
NC_000012.10:g.14545200C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261168.9:c.*2926C=
MANE Select
ENSP00000261168.4:n.*2926C=
ENST00000261168.8:c.*2926C=
ENSP00000261168.4:n.*2926C=
ENST00000536444.5:c.*2926C=
ENSP00000445955.1:n.*2926C=
NM_001286514.1:c.*2926C=
NP_001273443.1:n.*2926C=
NM_018179.4:c.*2926C=
NP_060649.3:n.*2926C=
NM_181352.1:c.*2926C=
NP_851997.1:n.*2926C=
XM_005253424.4:c.*2926C=
XP_005253481.1:n.*2926C=
XM_006719108.3:c.*2926C=
XP_006719171.1:n.*2926C=
XM_006719109.3:c.*2926C=
XP_006719172.1:n.*2926C=
XM_011520754.3:c.*2926C=
XP_011519056.1:n.*2926C=
XM_011520755.2:c.*2926C=
XP_011519057.1:n.*2926C=
XM_017019638.1:c.*2926C=
XP_016875127.1:n.*2926C=
XM_017019639.1:c.*2926C=
XP_016875128.1:n.*2926C=
XR_001748808.2:n.6845C=
NM_001286514.2:c.*2926C=
NP_001273443.1:n.*2926C=
NM_181352.2:c.*2926C=
NP_851997.1:n.*2926C=
NM_001388179.1:c.*2926C=
NP_001375108.1:n.*2926C=
NM_001388180.1:c.*2926C=
NP_001375109.1:n.*2926C=
NM_001388181.1:c.*2926C=
NP_001375110.1:n.*2926C=
NM_001388182.1:c.*2926C=
NP_001375111.1:n.*2926C=
NM_001388183.1:c.*2926C=
NP_001375112.1:n.*2926C=
NM_001388184.1:c.*2926C=
NP_001375113.1:n.*2926C=
NM_018179.5:c.*2926C=
MANE Select
NP_060649.3:n.*2926C=
NR_170893.1:n.6803C=