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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_000017.11:g.1495561G>T , CM000679.2:g.1495561G>T
GRCh38
NC_000017.10:g.1398855G>T , CM000679.1:g.1398855G>T
GRCh37
NC_000017.9:g.1345605G>T
NCBI36
NG_029891.1:g.26328C>A
NG_047063.1:g.2147C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000421807.7:c.*262C>A
MANE Select
ENSP00000413937.2:n.*262C>A
ENST00000320345.10:c.*262C>A
ENSP00000318476.6:n.*262C>A
ENST00000406424.8:c.*262C>A
ENSP00000385177.4:n.*262C>A
ENST00000421807.6:c.*262C>A
ENSP00000413937.2:n.*262C>A
NM_001135642.1:c.*262C>A
NP_001129114.1:n.*262C>A
NM_016532.3:c.*262C>A
NP_057616.2:n.*262C>A
NM_130766.2:c.*262C>A
NP_570122.1:n.*262C>A
XM_005256683.2:c.*262C>A
XP_005256740.1:n.*262C>A
XM_005256685.1:c.*262C>A
XP_005256742.1:n.*262C>A
XM_005256686.1:c.*262C>A
XP_005256743.1:n.*262C>A
XM_011523934.1:c.*262C>A
XP_011522236.1:n.*262C>A
XM_011523935.1:c.*262C>A
XP_011522237.1:n.*262C>A
XM_011523936.1:c.*262C>A
XP_011522238.1:n.*262C>A
XM_005256686.2:c.*262C>A
XP_005256743.1:n.*262C>A
XM_011523936.2:c.*262C>A
XP_011522238.1:n.*262C>A
XM_017024756.1:c.*262C>A
XP_016880245.1:n.*262C>A
XM_017024757.2:c.*262C>A
XP_016880246.1:n.*262C>A
XM_017024758.2:c.*262C>A
XP_016880247.1:n.*262C>A
XM_017024759.1:c.*262C>A
XP_016880248.1:n.*262C>A
XM_024450802.1:c.*262C>A
XP_024306570.1:n.*262C>A
NM_016532.4:c.*262C>A
MANE Select
NP_057616.2:n.*262C>A
NM_001135642.2:c.*262C>A
NP_001129114.1:n.*262C>A
NM_130766.3:c.*262C>A
NP_570122.1:n.*262C>A