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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_000011.10:g.67458779T>A , CM000673.2:g.67458779T>A
GRCh38
NC_000011.9:g.67226250T>A , CM000673.1:g.67226250T>A
GRCh37
NC_000011.8:g.66982826T>A
NCBI36
NG_021211.1:g.8433T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000325656.7:c.*120T>A
MANE Select
ENSP00000324960.5:n.*120T>A
ENST00000325656.6:c.*120T>A
ENSP00000324960.5:n.*120T>A
ENST00000438189.6:c.*120T>A
ENSP00000401555.2:n.*120T>A
NM_001300895.1:c.*120T>A
NP_001287824.1:n.*120T>A
NM_001300896.1:c.*120T>A
NP_001287825.1:n.*120T>A
NM_145200.3:c.*120T>A
NP_660201.1:n.*120T>A
XM_011545181.1:c.*120T>A
XP_011543483.1:n.*120T>A
XM_011545182.1:c.*120T>A
XP_011543484.1:n.*120T>A
XM_011545183.1:c.*120T>A
XP_011543485.1:n.*120T>A
XM_011545184.1:c.*120T>A
XP_011543486.1:n.*120T>A
XM_011545181.2:c.*120T>A
XP_011543483.1:n.*120T>A
XM_011545182.2:c.*120T>A
XP_011543484.1:n.*120T>A
XM_011545183.2:c.*120T>A
XP_011543485.1:n.*120T>A
XM_017018025.1:c.*120T>A
XP_016873514.1:n.*120T>A
XM_024448615.1:c.*120T>A
XP_024304383.1:n.*120T>A
XM_024448616.1:c.*120T>A
XP_024304384.1:n.*120T>A
NM_001300895.2:c.*120T>A
NP_001287824.1:n.*120T>A
NM_001300896.2:c.*120T>A
NP_001287825.1:n.*120T>A
NM_145200.4:c.*120T>A
NP_660201.1:n.*120T>A
NM_001300895.3:c.*120T>A
NP_001287824.1:n.*120T>A
NM_001300896.3:c.*120T>A
NP_001287825.1:n.*120T>A
NM_001379183.1:c.*120T>A
NP_001366112.1:n.*120T>A
NM_145200.5:c.*120T>A
MANE Select
NP_660201.1:n.*120T>A
NR_166529.1:n.843T>A