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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_000003.12:g.30672437G>A , CM000665.2:g.30672437G>A
GRCh38
NC_000003.11:g.30713929G>A , CM000665.1:g.30713929G>A
GRCh37
NC_000003.10:g.30688933G>A
NCBI36
NG_007490.1:g.70936G>A , LRG_779:g.70936G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295754.10:c.1254G>A
MANE Select
ENSP00000295754.5:p.Gln418=
ENST00000672866.1:n.2850G>A
ENST00000295754.9:c.1254G>A
ENSP00000295754.5:p.Gln418=
ENST00000359013.4:c.1329G>A
ENSP00000351905.4:p.Gln443=
NM_001024847.2:c.1329G>A , LRG_779t1:c.1329G>A
NP_001020018.1:p.Gln443=
NM_003242.5:c.1254G>A
NP_003233.4:p.Gln418=
XM_011534043.1:c.1281G>A
XP_011532345.1:p.Gln427=
XM_011534044.1:c.1206G>A
XP_011532346.1:p.Gln402=
XM_011534045.1:c.1149G>A
XP_011532347.1:p.Gln383=
XM_011534043.2:c.1281G>A
XP_011532345.1:p.Gln427=
XM_011534045.3:c.1149G>A
XP_011532347.1:p.Gln383=
XM_017007106.1:c.1149G>A
XP_016862595.1:p.Gln383=
NM_003242.6:c.1254G>A
MANE Select
NP_003233.4:p.Gln418=