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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.68409982C>G , CM000673.2:g.68409982C>G
GRCh38
NC_000011.9:g.68177450C>G , CM000673.1:g.68177450C>G
GRCh37
NC_000011.8:g.67934026C>G
NCBI36
NG_015835.1:g.102343C>G
NG_015835.2:g.102343C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000294304.12:c.2160C>G
MANE Select
ENSP00000294304.6:p.Pro720=
ENST00000294304.11:c.2160C>G
ENSP00000294304.6:p.Pro720=
ENST00000529993.5:c.*766C>G
ENSP00000436652.1:n.*766C>G
NM_001291902.1:c.417C>G
NP_001278831.1:p.Pro139=
NM_002335.3:c.2160C>G
NP_002326.2:p.Pro720=
XM_005273994.2:c.2160C>G
XP_005274051.1:p.Pro720=
XM_011545029.1:c.2187C>G
XP_011543331.1:p.Pro729=
XM_011545030.1:c.2187C>G
XP_011543332.1:p.Pro729=
XM_011545031.1:c.2187C>G
XP_011543333.1:p.Pro729=
XR_949925.1:n.2202C>G
XR_949926.1:n.2202C>G
XM_017017735.1:c.417C>G
XP_016873224.1:p.Pro139=
XR_001747874.1:n.2202C>G
XR_949925.2:n.2202C>G
XR_949926.2:n.2202C>G
NM_002335.4:c.2160C>G
MANE Select
NP_002326.2:p.Pro720=
NM_001291902.2:c.417C>G
NP_001278831.1:p.Pro139=