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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.1495564C>A , CM000679.2:g.1495564C>A
GRCh38
NC_000017.10:g.1398858C>A , CM000679.1:g.1398858C>A
GRCh37
NC_000017.9:g.1345608C>A
NCBI36
NG_029891.1:g.26325G>T
NG_047063.1:g.2144G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000421807.7:c.*259G>T
MANE Select
ENSP00000413937.2:n.*259G>T
ENST00000320345.10:c.*259G>T
ENSP00000318476.6:n.*259G>T
ENST00000406424.8:c.*259G>T
ENSP00000385177.4:n.*259G>T
ENST00000421807.6:c.*259G>T
ENSP00000413937.2:n.*259G>T
NM_001135642.1:c.*259G>T
NP_001129114.1:n.*259G>T
NM_016532.3:c.*259G>T
NP_057616.2:n.*259G>T
NM_130766.2:c.*259G>T
NP_570122.1:n.*259G>T
XM_005256683.2:c.*259G>T
XP_005256740.1:n.*259G>T
XM_005256685.1:c.*259G>T
XP_005256742.1:n.*259G>T
XM_005256686.1:c.*259G>T
XP_005256743.1:n.*259G>T
XM_011523934.1:c.*259G>T
XP_011522236.1:n.*259G>T
XM_011523935.1:c.*259G>T
XP_011522237.1:n.*259G>T
XM_011523936.1:c.*259G>T
XP_011522238.1:n.*259G>T
XM_005256686.2:c.*259G>T
XP_005256743.1:n.*259G>T
XM_011523936.2:c.*259G>T
XP_011522238.1:n.*259G>T
XM_017024756.1:c.*259G>T
XP_016880245.1:n.*259G>T
XM_017024757.2:c.*259G>T
XP_016880246.1:n.*259G>T
XM_017024758.2:c.*259G>T
XP_016880247.1:n.*259G>T
XM_017024759.1:c.*259G>T
XP_016880248.1:n.*259G>T
XM_024450802.1:c.*259G>T
XP_024306570.1:n.*259G>T
NM_016532.4:c.*259G>T
MANE Select
NP_057616.2:n.*259G>T
NM_001135642.2:c.*259G>T
NP_001129114.1:n.*259G>T
NM_130766.3:c.*259G>T
NP_570122.1:n.*259G>T