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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.67483154G= , CM000673.2:g.67483154G=
GRCh38
NC_000011.9:g.67250625G= , CM000673.1:g.67250625G=
GRCh37
NC_000011.8:g.67007201G=
NCBI36
NG_008969.1:g.5121G= , LRG_460:g.5121G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000528641.7:c.-5G=
ENSP00000434982.3:n.-5G=
ENST00000682324.1:c.-5G=
ENSP00000508017.1:n.-5G=
ENST00000682699.1:c.-5G=
ENSP00000507935.1:n.-5G=
ENST00000683237.1:c.-5G=
ENSP00000507343.1:n.-5G=
ENST00000684006.1:c.-5G=
ENSP00000507269.1:n.-5G=
ENST00000684657.1:c.-5G=
ENSP00000507961.1:n.-5G=
ENST00000279146.8:c.-5G=
MANE Select
ENSP00000279146.3:n.-5G=
ENST00000279146.7:c.-5G=
ENSP00000279146.3:n.-5G=
ENST00000528641.6:c.-5G=
ENSP00000434982.2:n.-5G=
ENST00000529797.1:n.106G=
NM_001302960.1:c.-5G=
NP_001289889.1:n.-5G=
NM_003977.3:c.-5G=
NP_003968.3:n.-5G=
XM_024448761.1:c.-5G=
XP_024304529.1:n.-5G=
NM_003977.4:c.-5G=
MANE Select
NP_003968.3:n.-5G=
NM_001302960.2:c.-5G=
NP_001289889.1:n.-5G=