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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.34489343T>C , CM000671.2:g.34489343T>C
GRCh38
NC_000009.11:g.34489341T>C , CM000671.1:g.34489341T>C
GRCh37
NC_000009.10:g.34479341T>C
NCBI36
NG_008127.1:g.35531T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000242317.9:c.282T>C
MANE Select
ENSP00000242317.4:p.Ile94=
ENST00000242317.8:c.282T>C
ENSP00000242317.4:p.Ile94=
ENST00000437363.5:c.249T>C
ENSP00000395396.1:p.Ile83=
ENST00000488369.1:n.398T>C
ENST00000614641.4:c.282T>C
ENSP00000480538.1:p.Ile94=
NM_001281428.1:c.282T>C
NP_001268357.1:p.Ile94=
NM_012144.3:c.282T>C
NP_036276.1:p.Ile94=
XM_011517846.1:c.282T>C
XP_011516148.1:p.Ile94=
XM_011517847.1:c.282T>C
XP_011516149.1:p.Ile94=
XM_011517848.1:c.282T>C
XP_011516150.1:p.Ile94=
XM_011517849.1:c.282T>C
XP_011516151.1:p.Ile94=
XM_011517850.1:c.282T>C
XP_011516152.1:p.Ile94=
XR_929232.1:n.536T>C
XR_929233.1:n.536T>C
XR_929235.1:n.536T>C
XM_006716758.3:c.-195T>C
XP_006716821.1:n.-195T>C
XM_011517846.2:c.282T>C
XP_011516148.1:p.Ile94=
XM_011517847.3:c.282T>C
XP_011516149.1:p.Ile94=
XM_011517848.2:c.282T>C
XP_011516150.1:p.Ile94=
XM_011517849.2:c.282T>C
XP_011516151.1:p.Ile94=
XM_011517850.3:c.282T>C
XP_011516152.1:p.Ile94=
XM_017014625.2:c.282T>C
XP_016870114.1:p.Ile94=
XR_002956774.1:n.483T>C
XR_929232.2:n.483T>C
XR_929233.2:n.483T>C
NM_012144.4:c.282T>C
MANE Select
NP_036276.1:p.Ile94=
NM_001281428.2:c.282T>C
NP_001268357.1:p.Ile94=