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.40471851G>C , CM000677.2:g.40471851G>C | GRCh38 |
| NC_000015.9:g.40764050G>C , CM000677.1:g.40764050G>C | GRCh37 |
| NC_000015.8:g.38551342G>C | NCBI36 |
| NG_017074.1:g.5891G>C , LRG_600:g.5891G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.638G>C MANE Select | NP_569735.1:p.Arg213Pro |
| ENST00000306243.7:c.638G>C MANE Select | ENSP00000307297.6:p.Arg213Pro |
| NM_130468.3:c.638G>C , LRG_600t1:c.638G>C | NP_569735.1:p.Arg213Pro |
| ENST00000306243.6:c.638G>C | ENSP00000307297.5:p.Arg213Pro |
| ENST00000559991.1:c.563G>C | ENSP00000453882.1:p.Arg188Pro |