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Evidence Repository - SERVICE OUTAGE2026-04-17T09:00:00-0500 — 2026-04-22T17:00:00-0500 The Evidence Repository UI outage is being looked into. It appears to be an issue in the underlying API service, in particular unexpected elevated usage of an expensive matching and filtering request.
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.28111713C>A , CM000677.2:g.28111713C>A
GRCh38
NC_000015.9:g.28356859C>A , CM000677.1:g.28356859C>A
GRCh37
NC_000015.8:g.26030454C>A
NCBI36
NG_016355.1:g.215437G>T
Transcript Alleles
HGVS
Amino-acid Change
NM_004667.6:c.*50G>T
MANE Select
NP_004658.3:n.*50G>T
ENST00000261609.13:c.*50G>T
MANE Select
ENSP00000261609.8:n.*50G>T
NM_004667.5:c.*50G>T
NP_004658.3:n.*50G>T
ENST00000261609.11:c.*50G>T
ENSP00000261609.7:n.*50G>T
ENST00000566635.5:n.1680G>T
ENST00000650509.1:c.6034G>T
ENSP00000496936.1:n.6034G>T
XM_005268276.3:c.*50G>T
XP_005268333.1:n.*50G>T
XM_005268276.5:c.*50G>T
XP_005268333.1:n.*50G>T
XM_005268277.3:c.*50G>T
XP_005268334.1:n.*50G>T
XM_006720726.2:c.*50G>T
XP_006720789.1:n.*50G>T
XM_006720726.3:c.*50G>T
XP_006720789.1:n.*50G>T
XM_006720727.2:c.*50G>T
XP_006720790.1:n.*50G>T
XM_006720727.3:c.*50G>T
XP_006720790.1:n.*50G>T
XM_011522131.1:c.*50G>T
XP_011520433.1:n.*50G>T
XM_011522132.1:c.*50G>T
XP_011520434.1:n.*50G>T
XM_011522133.1:c.*50G>T
XP_011520435.1:n.*50G>T
XM_011522134.1:c.*50G>T
XP_011520436.1:n.*50G>T
XM_017022695.1:c.*50G>T
XP_016878184.1:n.*50G>T
XM_017022696.1:c.*50G>T
XP_016878185.1:n.*50G>T
XM_017022697.1:c.*50G>T
XP_016878186.1:n.*50G>T
XM_017022698.1:c.*50G>T
XP_016878187.1:n.*50G>T