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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.3636541T>G , CM000679.2:g.3636541T>G
GRCh38
NC_000017.10:g.3539835T>G , CM000679.1:g.3539835T>G
GRCh37
NC_000017.9:g.3486584T>G
NCBI36
NG_012489.1:g.5074T>G
NG_052852.1:g.4782A>C
NG_012489.2:g.5074T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000381870.8:c.-397T>G
ENSP00000371294.3:n.-397T>G
ENST00000673965.1:c.-392T>G
ENSP00000500995.1:n.-392T>G
ENST00000046640.7:c.-520T>G
ENSP00000046640.3:n.-520T>G
ENST00000381870.7:c.-397T>G
ENSP00000371294.3:n.-397T>G
NM_001031681.2:c.-397T>G
NP_001026851.2:n.-397T>G
NM_004937.2:c.-520T>G
NP_004928.2:n.-520T>G
XM_005256485.1:c.-520T>G
XP_005256542.1:n.-520T>G
XM_006721463.1:c.-392T>G
XP_006721526.1:n.-392T>G
XM_006721464.1:c.-876T>G
XP_006721527.1:n.-876T>G
XM_011523692.1:c.-881T>G
XP_011521994.1:n.-881T>G
XR_934003.1:n.74T>G
XM_005256485.3:c.-520T>G
XP_005256542.1:n.-520T>G
XM_006721463.3:c.-392T>G
XP_006721526.1:n.-392T>G
XM_006721464.2:c.-876T>G
XP_006721527.1:n.-876T>G
XM_011523692.2:c.-881T>G
XP_011521994.1:n.-881T>G
XM_017024254.1:c.-797T>G
XP_016879743.1:n.-797T>G
XM_017024255.1:c.-876T>G
XP_016879744.1:n.-876T>G
XM_017024256.1:c.-881T>G
XP_016879745.1:n.-881T>G
XM_017024257.1:c.-797T>G
XP_016879746.1:n.-797T>G
XM_017024258.1:c.-796T>G
XP_016879747.1:n.-796T>G
NM_001031681.3:c.-397T>G
NP_001026851.2:n.-397T>G