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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_000001.11:g.16985967A>T , CM000663.2:g.16985967A>T
GRCh38
NC_000001.10:g.17312462A>T , CM000663.1:g.17312462A>T
GRCh37
NC_000001.9:g.17185049A>T
NCBI36
NG_009054.1:g.30962T>A
NG_029688.1:g.620T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000326735.13:c.*254T>A
MANE Select
ENSP00000327214.8:n.*254T>A
ENST00000326735.12:c.*254T>A
ENSP00000327214.8:n.*254T>A
ENST00000341676.9:c.*18T>A
ENSP00000341115.5:n.*18T>A
ENST00000452699.5:c.*254T>A
ENSP00000413307.1:n.*254T>A
ENST00000466561.1:n.1843T>A
NM_001141973.2:c.*254T>A
NP_001135445.1:n.*254T>A
NM_001141974.2:c.*18T>A
NP_001135446.1:n.*18T>A
NM_022089.3:c.*254T>A
NP_071372.1:n.*254T>A
XM_005245809.1:c.*18T>A
XP_005245866.1:n.*18T>A
XM_005245810.1:c.*18T>A
XP_005245867.1:n.*18T>A
XM_005245811.1:c.*18T>A
XP_005245868.1:n.*18T>A
XM_005245812.1:c.*18T>A
XP_005245869.1:n.*18T>A
XM_005245813.1:c.*18T>A
XP_005245870.1:n.*18T>A
XM_005245815.1:c.*18T>A
XP_005245872.1:n.*18T>A
XM_006710512.1:c.*18T>A
XP_006710575.1:n.*18T>A
XM_006710513.1:c.*18T>A
XP_006710576.1:n.*18T>A
XM_011541128.1:c.*18T>A
XP_011539430.1:n.*18T>A
XM_011541129.1:c.*18T>A
XP_011539431.1:n.*18T>A
XM_017000844.1:c.*254T>A
XP_016856333.1:n.*254T>A
XM_017000845.1:c.*254T>A
XP_016856334.1:n.*254T>A
XM_017000846.1:c.*254T>A
XP_016856335.1:n.*254T>A
XM_017000847.1:c.*254T>A
XP_016856336.1:n.*254T>A
XM_017000848.1:c.*254T>A
XP_016856337.1:n.*254T>A
XM_017000849.1:c.*254T>A
XP_016856338.1:n.*254T>A
XM_017000850.1:c.*254T>A
XP_016856339.1:n.*254T>A
NM_022089.4:c.*254T>A
MANE Select
NP_071372.1:n.*254T>A
NM_001141973.3:c.*254T>A
NP_001135445.1:n.*254T>A
NM_001141974.3:c.*18T>A
NP_001135446.1:n.*18T>A