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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_000011.10:g.119093549T>C , CM000673.2:g.119093549T>C
GRCh38
NC_000011.9:g.118964259T>C , CM000673.1:g.118964259T>C
GRCh37
NC_000011.8:g.118469469T>C
NCBI36
NG_008093.1:g.13673T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000686218.1:c.*266T>C
ENSP00000509288.1:n.*266T>C
ENST00000652429.1:c.*266T>C
MANE Select
ENSP00000498786.1:n.*266T>C
ENST00000392841.1:c.*266T>C
ENSP00000376584.1:n.*266T>C
NM_000190.3:c.*266T>C
NP_000181.2:n.*266T>C
NM_001024382.1:c.*266T>C
NP_001019553.1:n.*266T>C
NM_001258208.1:c.*266T>C
NP_001245137.1:n.*266T>C
NM_001258209.1:c.*266T>C
NP_001245138.1:n.*266T>C
XM_005271531.1:c.*266T>C
XP_005271588.1:n.*266T>C
XM_005271532.1:c.*266T>C
XP_005271589.1:n.*266T>C
XM_005271533.2:c.*266T>C
XP_005271590.1:n.*266T>C
XM_011542796.1:c.*266T>C
XP_011541098.1:n.*266T>C
NM_000190.4:c.*266T>C
MANE Select
NP_000181.2:n.*266T>C
NM_001024382.2:c.*266T>C
NP_001019553.1:n.*266T>C
XM_005271533.3:c.*266T>C
XP_005271590.1:n.*266T>C
XM_017017629.1:c.*266T>C
XP_016873118.1:n.*266T>C
XM_024448460.1:c.*266T>C
XP_024304228.1:n.*266T>C
NM_001258208.2:c.*266T>C
NP_001245137.1:n.*266T>C
NM_001258209.2:c.*266T>C
NP_001245138.1:n.*266T>C