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.48728522C>T , CM000679.2:g.48728522C>T | GRCh38 |
| NC_000017.10:g.46805884C>T , CM000679.1:g.46805884C>T | GRCh37 |
| NC_000017.9:g.44160883C>T | NCBI36 |
| NG_033789.1:g.5228G>A , LRG_771:g.5228G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006361.6:c.72G>A MANE Select | NP_006352.2:p.Gly24= |
| ENST00000290295.8:c.72G>A MANE Select | ENSP00000290295.8:p.Gly24= |
| NM_006361.5:c.72G>A , LRG_771t1:c.72G>A | NP_006352.2:p.Gly24= |
| ENST00000290295.7:c.72G>A | ENSP00000290295.7:p.Gly24= |