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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_000019.10:g.1206912G= , CM000681.2:g.1206912G=
GRCh38
NC_000019.9:g.1206911G= , CM000681.1:g.1206911G=
GRCh37
NC_000019.8:g.1157911G=
NCBI36
NG_007460.2:g.22506G= , LRG_319:g.22506G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000585465.3:c.-2G=
ENSP00000490268.2:n.-2G=
ENST00000585748.3:c.-82-11505G=
ENSP00000477641.2:n.-82-11505G=
ENST00000585851.2:c.-2G=
ENSP00000467912.2:n.-2G=
ENST00000326873.12:c.-2G=
MANE Select
ENSP00000324856.6:n.-2G=
ENST00000652231.1:c.-2G=
ENSP00000498804.1:n.-2G=
ENST00000326873.11:c.-2G=
ENSP00000324856.6:n.-2G=
ENST00000585748.2:c.-82-11505G=
ENSP00000477641.1:n.-82-11505G=
ENST00000585851.1:c.-2G=
ENSP00000467912.1:n.-2G=
ENST00000586243.5:c.-2G=
ENSP00000467240.2:n.-2G=
ENST00000589152.5:n.89G=
ENST00000593219.5:c.-2G=
ENSP00000466610.1:n.-2G=
NM_000455.4:c.-2G= , LRG_319t1:c.-2G=
NP_000446.1:n.-2G=
XM_005259617.1:c.-2G=
XP_005259674.1:n.-2G=
XM_005259618.3:c.-2G=
XP_005259675.1:n.-2G=
XM_011528209.1:c.-355G=
XP_011526511.1:n.-355G=
XR_936204.1:n.624G=
XM_005259617.3:c.-2G=
XP_005259674.1:n.-2G=
XM_011528209.2:c.-355G=
XP_011526511.1:n.-355G=
XR_001753738.2:n.624G=
XR_001753739.1:n.624G=
XR_001753740.2:n.624G=
NM_000455.5:c.-2G=
MANE Select
NP_000446.1:n.-2G=