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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.1510687A>G , CM000678.2:g.1510687A>G
GRCh38
NC_000016.9:g.1560688A>G , CM000678.1:g.1560688A>G
GRCh37
NC_000016.8:g.1500689A>G
NCBI36
NG_032783.1:g.106422T>C
NG_050910.1:g.22344A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000426508.7:c.*257T>C
MANE Select
ENSP00000406012.2:n.*257T>C
ENST00000361339.9:c.*257T>C
ENSP00000354895.5:n.*257T>C
ENST00000397417.6:c.*3084T>C
ENSP00000380562.2:n.*3084T>C
ENST00000426508.6:c.*257T>C
ENSP00000406012.2:n.*257T>C
ENST00000565298.5:n.4470T>C
NM_014714.3:c.*257T>C
NP_055529.2:n.*257T>C
XM_006720989.2:c.*257T>C
XP_006721052.1:n.*257T>C
XM_006720990.2:c.*257T>C
XP_006721053.1:n.*257T>C
XM_006720991.2:c.*257T>C
XP_006721054.1:n.*257T>C
XM_006720992.2:c.*257T>C
XP_006721055.1:n.*257T>C
XM_011522766.1:c.*257T>C
XP_011521068.1:n.*257T>C
XM_011522767.1:c.*257T>C
XP_011521069.1:n.*257T>C
XM_006720990.3:c.*257T>C
XP_006721053.1:n.*257T>C
XM_006720991.3:c.*257T>C
XP_006721054.1:n.*257T>C
XM_006720992.3:c.*257T>C
XP_006721055.1:n.*257T>C
XM_011522766.3:c.*257T>C
XP_011521068.1:n.*257T>C
XM_011522767.2:c.*257T>C
XP_011521069.1:n.*257T>C
XM_017023910.1:c.*257T>C
XP_016879399.1:n.*257T>C
XM_017023911.1:c.*257T>C
XP_016879400.1:n.*257T>C
NM_014714.4:c.*257T>C
MANE Select
NP_055529.2:n.*257T>C