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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_000008.11:g.26865472G>T , CM000670.2:g.26865472G>T
GRCh38
NC_000008.10:g.26722989G>T , CM000670.1:g.26722989G>T
GRCh37
NC_000008.9:g.26778906G>T
NCBI36
NG_029395.1:g.4934C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380573.4:c.-503C>A
MANE Select
ENSP00000369947.3:n.-503C>A
ENST00000380573.3:c.-503C>A
ENSP00000369947.3:n.-503C>A
XM_005273414.3:c.-503C>A
XP_005273471.1:n.-503C>A
XM_006716292.2:c.-503C>A
XP_006716355.1:n.-503C>A
XM_006716293.2:c.-503C>A
XP_006716356.1:n.-503C>A
XM_011544411.1:c.-503C>A
XP_011542713.1:n.-503C>A
XM_011544412.1:c.-503C>A
XP_011542714.1:n.-503C>A
NM_000680.3:c.-503C>A
NP_000671.2:n.-503C>A
NM_001322502.1:c.-503C>A
NP_001309431.1:n.-503C>A
NM_001322503.1:c.-503C>A
NP_001309432.1:n.-503C>A
NM_001322504.1:c.-503C>A
NP_001309433.1:n.-503C>A
NM_033302.3:c.-503C>A
NP_150645.2:n.-503C>A
NM_033303.4:c.-503C>A
NP_150646.3:n.-503C>A
NM_033304.3:c.-503C>A
NP_150647.2:n.-503C>A
NR_136343.1:n.184C>A
XM_006716292.3:c.-503C>A
XP_006716355.1:n.-503C>A
XM_006716293.4:c.-503C>A
XP_006716356.1:n.-503C>A
XM_011544411.2:c.-503C>A
XP_011542713.1:n.-503C>A
XM_011544412.3:c.-503C>A
XP_011542714.1:n.-503C>A
XM_017013094.1:c.-503C>A
XP_016868583.1:n.-503C>A
XM_017013095.1:c.-503C>A
XP_016868584.1:n.-503C>A
XM_017013096.1:c.-503C>A
XP_016868585.1:n.-503C>A
XR_001745476.1:n.519C>A
XR_001745477.1:n.519C>A
NM_000680.4:c.-503C>A
MANE Select
NP_000671.2:n.-503C>A