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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.53123831C>T , CM000665.2:g.53123831C>T
GRCh38
NC_000003.11:g.53157847C>T , CM000665.1:g.53157847C>T
GRCh37
NC_000003.10:g.53132887C>T
NCBI36
NG_009203.1:g.11624G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000296292.8:c.159G>A
MANE Select
ENSP00000296292.3:p.Leu53=
ENST00000296292.7:c.159G>A
ENSP00000296292.3:p.Leu53=
ENST00000394738.7:c.150-1268G>A
ENSP00000378223.3:n.150-1268G>A
ENST00000467048.1:c.159G>A
ENSP00000420325.1:p.Leu53=
NM_052859.3:c.159G>A
NP_443091.1:p.Leu53=
XM_005265537.3:c.159G>A
XP_005265594.1:p.Leu53=
XM_006713384.2:c.159G>A
XP_006713447.1:p.Leu53=
XM_011534214.1:c.159G>A
XP_011532516.1:p.Leu53=
XM_011534215.1:c.159G>A
XP_011532517.1:p.Leu53=
XR_940507.1:n.218G>A
XM_005265537.4:c.159G>A
XP_005265594.1:p.Leu53=
XM_006713384.3:c.159G>A
XP_006713447.1:p.Leu53=
XM_011534214.2:c.159G>A
XP_011532516.1:p.Leu53=
XM_011534215.3:c.159G>A
XP_011532517.1:p.Leu53=
XM_011534216.3:c.-682G>A
XP_011532518.1:n.-682G>A
XM_017007460.1:c.159G>A
XP_016862949.1:p.Leu53=
XM_017007461.2:c.-682G>A
XP_016862950.1:n.-682G>A
XR_001740360.2:n.225G>A
NM_052859.4:c.159G>A
MANE Select
NP_443091.1:p.Leu53=