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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_000005.10:g.31532401C= , CM000667.2:g.31532401C=
GRCh38
NC_000005.9:g.31532508C= , CM000667.1:g.31532508C=
GRCh37
NC_000005.8:g.31568265C=
NCBI36
NG_051574.1:g.4775G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000325366.14:c.9C=
MANE Select
ENSP00000326879.9:p.Asp3=
ENST00000325366.13:c.9C=
ENSP00000326879.9:p.Asp3=
ENST00000504464.5:c.9C=
ENSP00000430261.1:p.Asp3=
ENST00000507818.6:c.9C=
ENSP00000430860.1:p.Asp3=
ENST00000510659.5:c.9C=
ENSP00000423039.1:p.Asp3=
ENST00000511208.2:c.9C=
ENSP00000428898.1:p.Asp3=
ENST00000513967.5:c.9C=
ENSP00000421667.1:p.Asp3=
ENST00000515409.5:n.107C=
ENST00000517780.1:n.107C=
NM_018356.2:c.9C=
NP_060826.2:p.Asp3=
XM_005248319.2:c.-563C=
XP_005248376.1:n.-563C=
XM_006714479.1:c.-152C=
XP_006714542.1:n.-152C=
XM_006714480.2:c.-474C=
XP_006714543.1:n.-474C=
XM_011514062.1:c.9C=
XP_011512364.1:p.Asp3=
NR_134298.1:n.136C=
XM_006714479.2:c.-152C=
XP_006714542.1:n.-152C=
XM_006714480.3:c.-474C=
XP_006714543.1:n.-474C=
XM_011514062.3:c.9C=
XP_011512364.1:p.Asp3=
XM_017009607.1:c.9C=
XP_016865096.1:p.Asp3=
XM_017009608.2:c.9C=
XP_016865097.1:p.Asp3=
XM_017009609.1:c.-152C=
XP_016865098.1:n.-152C=
XM_017009610.1:c.-566C=
XP_016865099.1:n.-566C=
XM_017009611.2:c.-563C=
XP_016865100.1:n.-563C=
XM_017009612.2:c.-474C=
XP_016865101.1:n.-474C=
XM_017009613.2:c.-566C=
XP_016865102.1:n.-566C=
XM_017009614.1:c.-659C=
XP_016865103.1:n.-659C=
XM_017009615.1:c.-567C=
XP_016865104.1:n.-567C=
XM_017009616.1:c.-471C=
XP_016865105.1:n.-471C=
NM_018356.3:c.9C=
MANE Select
NP_060826.2:p.Asp3=
NR_134298.2:n.101C=