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_000007.14:g.94423102G= , CM000669.2:g.94423102G= | GRCh38 |
| NC_000007.13:g.94052414G= , CM000669.1:g.94052414G= | GRCh37 |
| NC_000007.12:g.93890350G= | NCBI36 |
| NG_007405.1:g.33542G= , LRG_2:g.33542G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2549G= MANE Select | NP_000080.2:p.Gly850= |
| ENST00000297268.11:c.2549G= MANE Select | ENSP00000297268.6:p.Gly850= |
| NM_000089.3:c.2549G= , LRG_2t1:c.2549G= | NP_000080.2:p.Gly850= |
| ENST00000297268.10:c.2549G= | ENSP00000297268.6:p.Gly850= |
| ENST00000481570.5:n.632G= | |
| ENST00000497316.5:n.946G= | |
| ENST00000620463.1:c.2543G= | ENSP00000477719.1:p.Gly848= |