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_000015.10:g.40471997G>A , CM000677.2:g.40471997G>A | GRCh38 |
| NC_000015.9:g.40764196G>A , CM000677.1:g.40764196G>A | GRCh37 |
| NC_000015.8:g.38551488G>A | NCBI36 |
| NG_017074.1:g.6037G>A , LRG_600:g.6037G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.784G>A MANE Select | NP_569735.1:p.Glu262Lys |
| ENST00000306243.7:c.784G>A MANE Select | ENSP00000307297.6:p.Glu262Lys |
| NM_130468.3:c.784G>A , LRG_600t1:c.784G>A | NP_569735.1:p.Glu262Lys |
| ENST00000306243.6:c.784G>A | ENSP00000307297.5:p.Glu262Lys |
| ENST00000559991.1:c.709G>A | ENSP00000453882.1:p.Glu237Lys |