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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_000014.9:g.75013880A= , CM000676.2:g.75013880A=
GRCh38
NC_000014.8:g.75480583A= , CM000676.1:g.75480583A=
GRCh37
NC_000014.7:g.74550336A=
NCBI36
NG_008649.1:g.42653T= , LRG_217:g.42653T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355774.7:c.*3202T=
MANE Select
ENSP00000348020.2:n.*3202T=
ENST00000355774.6:c.*3202T=
ENSP00000348020.2:n.*3202T=
ENST00000380968.6:c.*3202T=
ENSP00000370355.3:n.*3202T=
NM_001040108.1:c.*3202T= , LRG_217t1:c.*3202T=
NP_001035197.1:n.*3202T=
NM_014381.2:c.*3202T=
NP_055196.2:n.*3202T=
XR_245681.2:n.6635T=
XM_005267532.5:c.*3202T=
XP_005267589.1:n.*3202T=
XM_005267533.5:c.*3202T=
XP_005267590.1:n.*3202T=
XM_011536646.3:c.*3202T=
XP_011534948.1:n.*3202T=
XM_024449538.1:c.*3202T=
XP_024305306.1:n.*3202T=
XM_024449539.1:c.*3202T=
XP_024305307.1:n.*3202T=
XR_001750229.2:n.6490T=
XR_245681.4:n.6582T=
NM_001040108.2:c.*3202T=
MANE Select
NP_001035197.1:n.*3202T=
NM_014381.3:c.*3202T=
NP_055196.2:n.*3202T=