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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_000009.12:g.123377110T>A , CM000671.2:g.123377110T>A
GRCh38
NC_000009.11:g.126139389T>A , CM000671.1:g.126139389T>A
GRCh37
NC_000009.10:g.125179210T>A
NCBI36
NG_051311.1:g.28046T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373631.8:c.*48T>A
MANE Select
ENSP00000362734.3:n.*48T>A
ENST00000373631.7:c.*48T>A
ENSP00000362734.3:n.*48T>A
ENST00000460253.1:c.*48T>A
ENSP00000435279.1:n.*48T>A
NM_173689.6:c.*48T>A
NP_775960.4:n.*48T>A
NR_104603.1:n.3020T>A
XM_005251934.1:c.*48T>A
XP_005251991.1:n.*48T>A
XM_011518556.1:c.*48T>A
XP_011516858.1:n.*48T>A
XM_011518557.1:c.*48T>A
XP_011516859.1:n.*48T>A
XM_011518558.1:c.*48T>A
XP_011516860.1:n.*48T>A
XM_005251934.3:c.*48T>A
XP_005251991.1:n.*48T>A
XM_011518556.3:c.*48T>A
XP_011516858.1:n.*48T>A
XM_011518557.3:c.*48T>A
XP_011516859.1:n.*48T>A
XM_011518558.3:c.*48T>A
XP_011516860.1:n.*48T>A
NM_173689.7:c.*48T>A
MANE Select
NP_775960.4:n.*48T>A
NR_104603.2:n.3020T>A