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.56594872T= , CM000679.2:g.56594872T= | GRCh38 |
| NC_000017.10:g.54672233T= , CM000679.1:g.54672233T= | GRCh37 |
| NC_000017.9:g.52027232T= | NCBI36 |
| NG_011958.1:g.6174T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005450.6:c.649T= MANE Select | NP_005441.1:p.Trp217= |
| ENST00000332822.6:c.649T= MANE Select | ENSP00000328181.4:p.Trp217= |
| NM_005450.4:c.649T= | NP_005441.1:p.Trp217= |
| ENST00000332822.4:c.649T= | ENSP00000328181.4:p.Trp217= |