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.
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_000005.10:g.96786516G>T , CM000667.2:g.96786516G>T | GRCh38 |
| NC_000005.9:g.96122220G>T , CM000667.1:g.96122220G>T | GRCh37 |
| NC_000005.8:g.96147976G>T | NCBI36 |
| NG_027839.1:g.32629C>A | |
| NG_027839.2:g.154468C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001040458.3:c.1713C>A MANE Select | NP_001035548.1:p.Thr571= |
| ENST00000443439.7:c.1713C>A MANE Select | ENSP00000406304.2:p.Thr571= |
| NM_001040458.1:c.1713C>A | NP_001035548.1:p.Thr571= |
| NM_001040458.2:c.1713C>A | NP_001035548.1:p.Thr571= |
| NM_001198541.1:c.1713C>A | NP_001185470.1:p.Thr571= |
| NM_001198541.2:c.1713C>A | NP_001185470.1:p.Thr571= |
| NM_001198541.3:c.1713C>A | NP_001185470.1:p.Thr571= |
| NM_001349244.1:c.1713C>A | NP_001336173.1:p.Thr571= |
| NM_001349244.2:c.1713C>A | NP_001336173.1:p.Thr571= |
| NM_016442.3:c.1713C>A | NP_057526.3:p.Thr571= |
| NM_016442.4:c.1713C>A | NP_057526.3:p.Thr571= |
| NM_016442.5:c.1713C>A | NP_057526.3:p.Thr571= |
| ENST00000296754.7:c.1713C>A | ENSP00000296754.3:p.Thr571= |
| ENST00000443439.6:c.1713C>A | ENSP00000406304.2:p.Thr571= |
| ENST00000507859.1:n.376C>A | |
| ENST00000514604.5:n.137C>A | |
| XM_005272015.3:c.1713C>A | XP_005272072.1:p.Thr571= |
| XM_005272015.5:c.1713C>A | XP_005272072.1:p.Thr571= |
| XM_005272016.3:c.1713C>A | XP_005272073.1:p.Thr571= |
| XM_005272016.4:c.1713C>A | XP_005272073.1:p.Thr571= |
| XM_011543480.1:c.1713C>A | XP_011541782.1:p.Thr571= |
| XM_011543480.2:c.1713C>A | XP_011541782.1:p.Thr571= |
| XM_011543481.1:c.1713C>A | XP_011541783.1:p.Thr571= |
| XM_011543481.2:c.1713C>A | XP_011541783.1:p.Thr571= |
| XM_011543482.1:c.1713C>A | XP_011541784.1:p.Thr571= |
| XM_011543483.1:c.1713C>A | XP_011541785.1:p.Thr571= |
| XM_011543484.1:c.1713C>A | XP_011541786.1:p.Thr571= |
| XM_011543484.2:c.1713C>A | XP_011541786.1:p.Thr571= |
| XM_011543485.1:c.1713C>A | XP_011541787.1:p.Thr571= |
| XM_011543485.2:c.1713C>A | XP_011541787.1:p.Thr571= |
| XM_011543486.1:c.1713C>A | XP_011541788.1:p.Thr571= |
| XM_011543486.3:c.1713C>A | XP_011541788.1:p.Thr571= |
| XM_011543487.1:c.1713C>A | XP_011541789.1:p.Thr571= |
| XM_017009581.1:c.1713C>A | XP_016865070.1:p.Thr571= |
| XM_017009583.2:c.618C>A | XP_016865072.1:p.Thr206= |
| XM_024446113.1:c.1713C>A | XP_024301881.1:p.Thr571= |
| XR_001742119.2:n.1851C>A |