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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.30672387C>T , CM000665.2:g.30672387C>T
GRCh38
NC_000003.11:g.30713879C>T , CM000665.1:g.30713879C>T
GRCh37
NC_000003.10:g.30688883C>T
NCBI36
NG_007490.1:g.70886C>T , LRG_779:g.70886C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295754.10:c.1204C>T
MANE Select
ENSP00000295754.5:p.Leu402=
ENST00000672866.1:n.2800C>T
ENST00000295754.9:c.1204C>T
ENSP00000295754.5:p.Leu402=
ENST00000359013.4:c.1279C>T
ENSP00000351905.4:p.Leu427=
NM_001024847.2:c.1279C>T , LRG_779t1:c.1279C>T
NP_001020018.1:p.Leu427=
NM_003242.5:c.1204C>T
NP_003233.4:p.Leu402=
XM_011534043.1:c.1231C>T
XP_011532345.1:p.Leu411=
XM_011534044.1:c.1156C>T
XP_011532346.1:p.Leu386=
XM_011534045.1:c.1099C>T
XP_011532347.1:p.Leu367=
XM_011534043.2:c.1231C>T
XP_011532345.1:p.Leu411=
XM_011534045.3:c.1099C>T
XP_011532347.1:p.Leu367=
XM_017007106.1:c.1099C>T
XP_016862595.1:p.Leu367=
NM_003242.6:c.1204C>T
MANE Select
NP_003233.4:p.Leu402=