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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_000002.12:g.168944919T= , CM000664.2:g.168944919T=
GRCh38
NC_000002.11:g.169801429T= , CM000664.1:g.169801429T=
GRCh37
NC_000002.10:g.169509675T=
NCBI36
NG_007374.1:g.91405A=
NG_007374.2:g.91478A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649448.1:c.703A=
ENSP00000497165.1:p.Asn235=
ENST00000650372.1:c.2386A=
MANE Select
ENSP00000497931.1:p.Asn796=
ENST00000263817.6:c.2386A=
ENSP00000263817.6:p.Asn796=
ENST00000439188.1:c.1075A=
ENSP00000416058.1:n.1075A=
NM_003742.2:c.2386A=
NP_003733.2:p.Asn796=
XM_006712817.2:c.2428A=
XP_006712880.1:p.Asn810=
XM_011512077.1:c.2488A=
XP_011510379.1:p.Asn830=
XM_011512078.1:c.2488A=
XP_011510380.1:p.Asn830=
XM_011512079.1:c.2488A=
XP_011510381.1:p.Asn830=
XM_011512080.1:c.2488A=
XP_011510382.1:p.Asn830=
XM_011512081.1:c.712A=
XP_011510383.1:p.Asn238=
NM_003742.4:c.2386A=
MANE Select
NP_003733.2:p.Asn796=
XM_006712817.3:c.2428A=
XP_006712880.1:p.Asn810=
XM_011512077.2:c.2488A=
XP_011510379.1:p.Asn830=
XM_011512078.2:c.2488A=
XP_011510380.1:p.Asn830=
XM_011512080.2:c.2488A=
XP_011510382.1:p.Asn830=
XM_011512081.2:c.712A=
XP_011510383.1:p.Asn238=
XM_017005165.1:c.2488A=
XP_016860654.1:p.Asn830=
XM_017005166.1:c.1717A=
XP_016860655.1:p.Asn573=
XM_017005167.1:c.1171A=
XP_016860656.1:p.Asn391=