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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_000011.10:g.6390501C= , CM000673.2:g.6390501C=
GRCh38
NC_000011.9:g.6411731C= , CM000673.1:g.6411731C=
GRCh37
NC_000011.8:g.6368307C=
NCBI36
NG_011780.1:g.5077C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000342245.9:c.-98C=
MANE Select
ENSP00000340409.4:n.-98C=
ENST00000342245.8:c.-98C=
ENSP00000340409.4:n.-98C=
ENST00000527275.5:c.-98C=
ENSP00000435350.1:n.-98C=
ENST00000530395.1:c.-234C=
ENSP00000431479.1:n.-234C=
ENST00000533196.1:n.62C=
ENST00000534405.5:c.-98C=
ENSP00000434353.1:n.-98C=
NM_000543.4:c.-98C=
NP_000534.3:n.-98C=
NM_001007593.2:c.-98C=
NP_001007594.2:n.-98C=
XM_005253075.3:c.-98C=
XP_005253132.1:n.-98C=
XM_011520303.1:c.-98C=
XP_011518605.1:n.-98C=
XM_011520304.1:c.-98C=
XP_011518606.1:n.-98C=
XR_930886.1:n.201C=
NM_001318087.1:c.-98C=
NP_001305016.1:n.-98C=
NM_001318088.1:c.-1059C=
NP_001305017.1:n.-1059C=
NM_001365135.1:c.-98C=
NP_001352064.1:n.-98C=
NR_027400.2:n.88C=
NR_134502.1:n.88C=
XM_011520304.2:c.-98C=
XP_011518606.1:n.-98C=
XR_001747940.2:n.28C=
XR_002957158.1:n.28C=
NM_000543.5:c.-98C=
MANE Select
NP_000534.3:n.-98C=
NM_001007593.3:c.-98C=
NP_001007594.2:n.-98C=
NM_001318087.2:c.-98C=
NP_001305016.1:n.-98C=
NM_001318088.2:c.-1059C=
NP_001305017.1:n.-1059C=
NM_001365135.2:c.-98C=
NP_001352064.1:n.-98C=
NR_027400.3:n.28C=
NR_134502.2:n.28C=