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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_000001.11:g.158685227G= , CM000663.2:g.158685227G=
GRCh38
NC_000001.10:g.158655017G= , CM000663.1:g.158655017G=
GRCh37
NC_000001.9:g.156921641G=
NCBI36
NG_011474.1:g.6490C=
Transcript Alleles
HGVS
Amino-acid Change
NM_003126.4:c.145C=
MANE Select
NP_003117.2:p.Leu49=
ENST00000643759.2:c.145C=
MANE Select
ENSP00000495214.1:p.Leu49=
NM_003126.2:c.145C=
NP_003117.2:p.Leu49=
NM_003126.3:c.145C=
NP_003117.2:p.Leu49=
ENST00000368147.8:c.145C=
ENSP00000357129.4:p.Leu49=
ENST00000467387.1:c.132+13C=
ENSP00000476485.1:n.132+13C=
ENST00000614909.4:c.145C=
ENSP00000482595.1:p.Leu49=
XM_011509916.1:c.145C=
XP_011508218.1:p.Leu49=
XM_011509916.2:c.145C=
XP_011508218.1:p.Leu49=
XM_011509917.1:c.145C=
XP_011508219.1:p.Leu49=
XM_011509917.3:c.145C=
XP_011508219.1:p.Leu49=
XM_011509918.1:c.145C=
XP_011508220.1:p.Leu49=
XM_011509918.3:c.145C=
XP_011508220.1:p.Leu49=
XM_011509919.1:c.145C=
XP_011508221.1:p.Leu49=
XM_011509919.3:c.145C=
XP_011508221.1:p.Leu49=
XR_921911.1:n.258C=
XR_921911.3:n.271C=
XR_921912.1:n.263C=
XR_921912.2:n.273C=