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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 allow 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_000018.10:g.23568884T>G , CM000680.2:g.23568884T>G
GRCh38
NC_000018.9:g.21148848T>G , CM000680.1:g.21148848T>G
GRCh37
NC_000018.8:g.19402846T>G
NCBI36
NG_012795.1:g.22734A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000269228.10:c.402A>C
MANE Select
ENSP00000269228.4:p.Thr134=
ENST00000269228.9:c.402A>C
ENSP00000269228.4:p.Thr134=
ENST00000540608.5:n.316A>C
NM_000271.4:c.402A>C
NP_000262.2:p.Thr134=
XM_005258277.1:c.402A>C
XP_005258334.1:p.Thr134=
XM_005258278.3:c.402A>C
XP_005258335.1:p.Thr134=
XM_005258279.1:c.402A>C
XP_005258336.1:p.Thr134=
XM_006722479.2:c.402A>C
XP_006722542.1:p.Thr134=
XM_011526015.1:c.-64A>C
XP_011524317.1:n.-64A>C
XM_005258278.5:c.402A>C
XP_005258335.1:p.Thr134=
XM_005258279.2:c.402A>C
XP_005258336.1:p.Thr134=
XM_006722479.3:c.402A>C
XP_006722542.1:p.Thr134=
XM_017025784.1:c.402A>C
XP_016881273.1:p.Thr134=
XM_017025785.1:c.402A>C
XP_016881274.1:p.Thr134=
XM_017025786.1:c.402A>C
XP_016881275.1:p.Thr134=
XM_017025787.1:c.402A>C
XP_016881276.1:p.Thr134=
NM_000271.5:c.402A>C
MANE Select
NP_000262.2:p.Thr134=