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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.168944881T>G , CM000664.2:g.168944881T>G
GRCh38
NC_000002.11:g.169801391T>G , CM000664.1:g.169801391T>G
GRCh37
NC_000002.10:g.169509637T>G
NCBI36
NG_007374.1:g.91443A>C
NG_007374.2:g.91516A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649448.1:c.741A>C
ENSP00000497165.1:p.Val247=
ENST00000650372.1:c.2424A>C
MANE Select
ENSP00000497931.1:p.Val808=
ENST00000263817.6:c.2424A>C
ENSP00000263817.6:p.Val808=
ENST00000439188.1:c.1113A>C
ENSP00000416058.1:n.1113A>C
NM_003742.2:c.2424A>C
NP_003733.2:p.Val808=
XM_006712817.2:c.2466A>C
XP_006712880.1:p.Val822=
XM_011512077.1:c.2526A>C
XP_011510379.1:p.Val842=
XM_011512078.1:c.2526A>C
XP_011510380.1:p.Val842=
XM_011512079.1:c.2526A>C
XP_011510381.1:p.Val842=
XM_011512080.1:c.2526A>C
XP_011510382.1:p.Val842=
XM_011512081.1:c.750A>C
XP_011510383.1:p.Val250=
NM_003742.4:c.2424A>C
MANE Select
NP_003733.2:p.Val808=
XM_006712817.3:c.2466A>C
XP_006712880.1:p.Val822=
XM_011512077.2:c.2526A>C
XP_011510379.1:p.Val842=
XM_011512078.2:c.2526A>C
XP_011510380.1:p.Val842=
XM_011512080.2:c.2526A>C
XP_011510382.1:p.Val842=
XM_011512081.2:c.750A>C
XP_011510383.1:p.Val250=
XM_017005165.1:c.2526A>C
XP_016860654.1:p.Val842=
XM_017005166.1:c.1755A>C
XP_016860655.1:p.Val585=
XM_017005167.1:c.1209A>C
XP_016860656.1:p.Val403=