INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48728033T>C , CM000679.2:g.48728033T>C | GRCh38 |
| NC_000017.10:g.46805395T>C , CM000679.1:g.46805395T>C | GRCh37 |
| NC_000017.9:g.44160394T>C | NCBI36 |
| NG_033789.1:g.5717A>G , LRG_771:g.5717A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006361.6:c.561A>G MANE Select | NP_006352.2:p.Glu187= |
| ENST00000290295.8:c.561A>G MANE Select | ENSP00000290295.8:p.Glu187= |
| NM_006361.5:c.561A>G , LRG_771t1:c.561A>G | NP_006352.2:p.Glu187= |
| ENST00000290295.7:c.561A>G | ENSP00000290295.7:p.Glu187= |