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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12915747T= , CM000686.2:g.12915747T=
GRCh38
NC_000024.9:g.15027659T= , CM000686.1:g.15027659T=
GRCh37
NC_000024.8:g.13537053T=
NCBI36
NG_012831.1:g.16641T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000336079.8:c.1137T=
MANE Select
ENSP00000336725.3:p.Phe379=
ENST00000336079.7:c.1137T=
ENSP00000336725.3:p.Phe379=
ENST00000360160.8:c.1137T=
ENSP00000353284.4:p.Phe379=
ENST00000495478.1:n.252T=
NM_001122665.2:c.1137T=
NP_001116137.1:p.Phe379=
NM_001302552.1:c.1128T=
NP_001289481.1:p.Phe376=
NM_004660.4:c.1137T=
NP_004651.2:p.Phe379=
XM_006724878.1:c.1137T=
XP_006724941.1:p.Phe379=
XM_011531471.1:c.1137T=
XP_011529773.1:p.Phe379=
NM_001122665.3:c.1137T=
NP_001116137.1:p.Phe379=
NM_001302552.2:c.1128T=
NP_001289481.1:p.Phe376=
NM_001324195.1:c.1137T=
NP_001311124.1:p.Phe379=
NR_136716.1:n.1606T=
NR_136717.1:n.1368T=
NR_136718.1:n.1686T=
NR_136719.1:n.1476T=
NR_136720.1:n.1606T=
NR_136721.1:n.1199T=
NR_136722.1:n.1283T=
NR_136723.1:n.1601T=
NR_136724.1:n.1521T=
XR_001756014.2:n.1241T=
NM_004660.5:c.1137T=
MANE Select
NP_004651.2:p.Phe379=
NM_001302552.3:c.1128T=
NP_001289481.1:p.Phe376=
NM_001324195.2:c.1137T=
NP_001311124.1:p.Phe379=
NR_136716.2:n.1524T=
NR_136717.2:n.1286T=
NR_136718.2:n.1604T=
NR_136719.2:n.1394T=
NR_136720.2:n.1524T=
NR_136721.2:n.1189T=