×
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_000007.14:g.101128398A>G , CM000669.2:g.101128398A>G
GRCh38
NC_000007.13:g.100771679A>G , CM000669.1:g.100771679A>G
GRCh37
NC_000007.12:g.100558399A>G
NCBI36
NG_013213.1:g.6301A>G , LRG_597:g.6301A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000223095.5:c.5A>G
MANE Select
ENSP00000223095.4:p.Gln2Arg
ENST00000223095.4:c.5A>G
ENSP00000223095.4:p.Gln2Arg
NM_000602.4:c.5A>G , LRG_597t1:c.5A>G
NP_000593.1:p.Gln2Arg
NM_000602.5:c.5A>G
MANE Select
NP_000593.1:p.Gln2Arg
NM_001386456.1:c.-32-216A>G
NP_001373385.1:n.-32-216A>G
NM_001386457.1:c.5A>G
NP_001373386.1:p.Gln2Arg
NM_001386458.1:c.5A>G
NP_001373387.1:p.Gln2Arg
NM_001386459.1:c.5A>G
NP_001373388.1:p.Gln2Arg
NM_001386460.1:c.5A>G
NP_001373389.1:p.Gln2Arg
NM_001386461.1:c.5A>G
NP_001373390.1:p.Gln2Arg
NM_001386462.1:c.-69-128A>G
NP_001373391.1:n.-69-128A>G
NM_001386463.1:c.1-2A>G
NP_001373392.1:n.1-2A>G
NM_001386464.1:c.5A>G
NP_001373393.1:p.Gln2Arg
NM_001386465.1:c.5A>G
NP_001373394.1:p.Gln2Arg
NM_001386466.1:c.5A>G
NP_001373395.1:p.Gln2Arg