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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.3636685C>A , CM000679.2:g.3636685C>A
GRCh38
NC_000017.10:g.3539979C>A , CM000679.1:g.3539979C>A
GRCh37
NC_000017.9:g.3486728C>A
NCBI36
NG_012489.1:g.5218C>A
NG_052852.1:g.4638G>T
NG_012489.2:g.5218C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000381870.8:c.-253C>A
ENSP00000371294.3:n.-253C>A
ENST00000673965.1:c.-248C>A
ENSP00000500995.1:n.-248C>A
ENST00000046640.7:c.-376C>A
ENSP00000046640.3:n.-376C>A
ENST00000381870.7:c.-253C>A
ENSP00000371294.3:n.-253C>A
NM_001031681.2:c.-253C>A
NP_001026851.2:n.-253C>A
NM_004937.2:c.-376C>A
NP_004928.2:n.-376C>A
XM_005256485.1:c.-376C>A
XP_005256542.1:n.-376C>A
XM_006721463.1:c.-248C>A
XP_006721526.1:n.-248C>A
XM_006721464.1:c.-732C>A
XP_006721527.1:n.-732C>A
XM_011523692.1:c.-737C>A
XP_011521994.1:n.-737C>A
XR_934003.1:n.218C>A
XM_005256485.3:c.-376C>A
XP_005256542.1:n.-376C>A
XM_006721463.3:c.-248C>A
XP_006721526.1:n.-248C>A
XM_006721464.2:c.-732C>A
XP_006721527.1:n.-732C>A
XM_011523692.2:c.-737C>A
XP_011521994.1:n.-737C>A
XM_017024254.1:c.-653C>A
XP_016879743.1:n.-653C>A
XM_017024255.1:c.-732C>A
XP_016879744.1:n.-732C>A
XM_017024256.1:c.-737C>A
XP_016879745.1:n.-737C>A
XM_017024257.1:c.-653C>A
XP_016879746.1:n.-653C>A
XM_017024258.1:c.-652C>A
XP_016879747.1:n.-652C>A
NM_001031681.3:c.-253C>A
NP_001026851.2:n.-253C>A