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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_000020.11:g.3667974A>G , CM000682.2:g.3667974A>G
GRCh38
NC_000020.10:g.3648621A>G , CM000682.1:g.3648621A>G
GRCh37
NC_000020.9:g.3596621A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000350009.6:c.*989T>C
ENSP00000322550.5:n.*989T>C
ENST00000356518.6:c.*989T>C
ENSP00000348912.2:n.*989T>C
ENST00000379861.8:c.*989T>C
ENSP00000369190.4:n.*989T>C
ENST00000466620.5:n.2992T>C
ENST00000483362.1:n.2354T>C
ENST00000619289.4:c.*989T>C
ENSP00000484600.1:n.*989T>C
NM_001282447.1:c.*989T>C
NP_001269376.1:n.*989T>C
NM_025220.3:c.*989T>C
NP_079496.1:n.*989T>C
NM_153202.2:c.*989T>C
NP_694882.1:n.*989T>C
XM_005260843.1:c.*989T>C
XP_005260900.1:n.*989T>C
XM_006723639.1:c.*989T>C
XP_006723702.1:n.*989T>C
XM_006723640.1:c.*989T>C
XP_006723703.1:n.*989T>C
XM_011529366.1:c.*989T>C
XP_011527668.1:n.*989T>C
XM_011529367.1:c.*989T>C
XP_011527669.1:n.*989T>C
XM_011529368.1:c.*989T>C
XP_011527670.1:n.*989T>C
XM_011529373.1:c.*989T>C
XP_011527675.1:n.*989T>C
XR_937153.1:n.3452T>C
XR_937154.1:n.3452T>C
XR_937155.1:n.3373T>C
XR_937157.1:n.3375T>C
NM_001282447.2:c.*989T>C
NP_001269376.1:n.*989T>C
NM_025220.4:c.*989T>C
NP_079496.1:n.*989T>C
NM_153202.3:c.*989T>C
NP_694882.1:n.*989T>C
XM_011529373.2:c.*989T>C
XP_011527675.1:n.*989T>C
XR_001754405.1:n.3539T>C
XR_002958534.1:n.3648T>C