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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.1510796G= , CM000678.2:g.1510796G=
GRCh38
NC_000016.9:g.1560797G= , CM000678.1:g.1560797G=
GRCh37
NC_000016.8:g.1500798G=
NCBI36
NG_032783.1:g.106313C=
NG_050910.1:g.22453G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000426508.7:c.*148C=
MANE Select
ENSP00000406012.2:n.*148C=
ENST00000361339.9:c.*148C=
ENSP00000354895.5:n.*148C=
ENST00000397417.6:c.*2975C=
ENSP00000380562.2:n.*2975C=
ENST00000426508.6:c.*148C=
ENSP00000406012.2:n.*148C=
ENST00000565298.5:n.4361C=
NM_014714.3:c.*148C=
NP_055529.2:n.*148C=
XM_006720989.2:c.*148C=
XP_006721052.1:n.*148C=
XM_006720990.2:c.*148C=
XP_006721053.1:n.*148C=
XM_006720991.2:c.*148C=
XP_006721054.1:n.*148C=
XM_006720992.2:c.*148C=
XP_006721055.1:n.*148C=
XM_011522766.1:c.*148C=
XP_011521068.1:n.*148C=
XM_011522767.1:c.*148C=
XP_011521069.1:n.*148C=
XM_006720990.3:c.*148C=
XP_006721053.1:n.*148C=
XM_006720991.3:c.*148C=
XP_006721054.1:n.*148C=
XM_006720992.3:c.*148C=
XP_006721055.1:n.*148C=
XM_011522766.3:c.*148C=
XP_011521068.1:n.*148C=
XM_011522767.2:c.*148C=
XP_011521069.1:n.*148C=
XM_017023910.1:c.*148C=
XP_016879399.1:n.*148C=
XM_017023911.1:c.*148C=
XP_016879400.1:n.*148C=
NM_014714.4:c.*148C=
MANE Select
NP_055529.2:n.*148C=