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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.3636555G>A , CM000679.2:g.3636555G>A
GRCh38
NC_000017.10:g.3539849G>A , CM000679.1:g.3539849G>A
GRCh37
NC_000017.9:g.3486598G>A
NCBI36
NG_012489.1:g.5088G>A
NG_052852.1:g.4768C>T
NG_012489.2:g.5088G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000381870.8:c.-383G>A
ENSP00000371294.3:n.-383G>A
ENST00000673965.1:c.-378G>A
ENSP00000500995.1:n.-378G>A
ENST00000046640.7:c.-506G>A
ENSP00000046640.3:n.-506G>A
ENST00000381870.7:c.-383G>A
ENSP00000371294.3:n.-383G>A
NM_001031681.2:c.-383G>A
NP_001026851.2:n.-383G>A
NM_004937.2:c.-506G>A
NP_004928.2:n.-506G>A
XM_005256485.1:c.-506G>A
XP_005256542.1:n.-506G>A
XM_006721463.1:c.-378G>A
XP_006721526.1:n.-378G>A
XM_006721464.1:c.-862G>A
XP_006721527.1:n.-862G>A
XM_011523692.1:c.-867G>A
XP_011521994.1:n.-867G>A
XR_934003.1:n.88G>A
XM_005256485.3:c.-506G>A
XP_005256542.1:n.-506G>A
XM_006721463.3:c.-378G>A
XP_006721526.1:n.-378G>A
XM_006721464.2:c.-862G>A
XP_006721527.1:n.-862G>A
XM_011523692.2:c.-867G>A
XP_011521994.1:n.-867G>A
XM_017024254.1:c.-783G>A
XP_016879743.1:n.-783G>A
XM_017024255.1:c.-862G>A
XP_016879744.1:n.-862G>A
XM_017024256.1:c.-867G>A
XP_016879745.1:n.-867G>A
XM_017024257.1:c.-783G>A
XP_016879746.1:n.-783G>A
XM_017024258.1:c.-782G>A
XP_016879747.1:n.-782G>A
NM_001031681.3:c.-383G>A
NP_001026851.2:n.-383G>A