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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_000017.11:g.60150049G>T , CM000679.2:g.60150049G>T
GRCh38
NC_000017.10:g.58227410G>T , CM000679.1:g.58227410G>T
GRCh37
NC_000017.9:g.55582192G>T
NCBI36
NG_012050.1:g.5109G>T
NG_012050.2:g.5109G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000300900.9:c.15G>T
MANE Select
ENSP00000300900.3:p.Leu5=
ENST00000300900.8:c.15G>T
ENSP00000300900.3:p.Leu5=
ENST00000585705.5:n.108G>T
ENST00000586876.1:c.15G>T
ENSP00000467465.1:p.Leu5=
ENST00000591725.1:c.-344G>T
ENSP00000466964.1:n.-344G>T
NM_000717.3:c.15G>T
NP_000708.1:p.Leu5=
XM_005257639.1:c.15G>T
XP_005257696.1:p.Leu5=
NM_000717.4:c.15G>T
NP_000708.1:p.Leu5=
NR_137422.1:n.114G>T
XM_005257639.3:c.15G>T
XP_005257696.1:p.Leu5=
XR_001752604.2:n.108G>T
XR_001752605.2:n.108G>T
XR_001752606.2:n.108G>T
XR_001752607.2:n.108G>T
XR_001752608.2:n.108G>T
XR_001752609.2:n.108G>T
XR_001752610.2:n.108G>T
NM_000717.5:c.15G>T
MANE Select
NP_000708.1:p.Leu5=
NR_137422.2:n.77G>T