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.40472034G>C , CM000677.2:g.40472034G>C | GRCh38 |
| NC_000015.9:g.40764233G>C , CM000677.1:g.40764233G>C | GRCh37 |
| NC_000015.8:g.38551525G>C | NCBI36 |
| NG_017074.1:g.6074G>C , LRG_600:g.6074G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.821G>C MANE Select | NP_569735.1:p.Arg274Pro |
| ENST00000306243.7:c.821G>C MANE Select | ENSP00000307297.6:p.Arg274Pro |
| NM_130468.3:c.821G>C , LRG_600t1:c.821G>C | NP_569735.1:p.Arg274Pro |
| ENST00000306243.6:c.821G>C | ENSP00000307297.5:p.Arg274Pro |
| ENST00000559991.1:c.746G>C | ENSP00000453882.1:p.Arg249Pro |