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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_000016.10:g.1510691G>T , CM000678.2:g.1510691G>T
GRCh38
NC_000016.9:g.1560692G>T , CM000678.1:g.1560692G>T
GRCh37
NC_000016.8:g.1500693G>T
NCBI36
NG_032783.1:g.106418C>A
NG_050910.1:g.22348G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000426508.7:c.*253C>A
MANE Select
ENSP00000406012.2:n.*253C>A
ENST00000361339.9:c.*253C>A
ENSP00000354895.5:n.*253C>A
ENST00000397417.6:c.*3080C>A
ENSP00000380562.2:n.*3080C>A
ENST00000426508.6:c.*253C>A
ENSP00000406012.2:n.*253C>A
ENST00000565298.5:n.4466C>A
NM_014714.3:c.*253C>A
NP_055529.2:n.*253C>A
XM_006720989.2:c.*253C>A
XP_006721052.1:n.*253C>A
XM_006720990.2:c.*253C>A
XP_006721053.1:n.*253C>A
XM_006720991.2:c.*253C>A
XP_006721054.1:n.*253C>A
XM_006720992.2:c.*253C>A
XP_006721055.1:n.*253C>A
XM_011522766.1:c.*253C>A
XP_011521068.1:n.*253C>A
XM_011522767.1:c.*253C>A
XP_011521069.1:n.*253C>A
XM_006720990.3:c.*253C>A
XP_006721053.1:n.*253C>A
XM_006720991.3:c.*253C>A
XP_006721054.1:n.*253C>A
XM_006720992.3:c.*253C>A
XP_006721055.1:n.*253C>A
XM_011522766.3:c.*253C>A
XP_011521068.1:n.*253C>A
XM_011522767.2:c.*253C>A
XP_011521069.1:n.*253C>A
XM_017023910.1:c.*253C>A
XP_016879399.1:n.*253C>A
XM_017023911.1:c.*253C>A
XP_016879400.1:n.*253C>A
NM_014714.4:c.*253C>A
MANE Select
NP_055529.2:n.*253C>A