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_000023.11:g.630960C>T , CM000685.2:g.630960C>T | GRCh38 |
| NC_000023.10:g.591695C>T , CM000685.1:g.591695C>T | GRCh37 |
| NC_000023.9:g.511695C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000686671.1:c.63C>T MANE Select | ENSP00000508521.1:p.Gly21= |
| ENST00000334060.8:c.63C>T | ENSP00000335505.3:p.Gly21= |
| ENST00000381575.6:c.63C>T | ENSP00000370987.1:p.Gly21= |
| ENST00000381578.6:c.63C>T | ENSP00000370990.1:p.Gly21= |
| ENST00000554971.6:c.63C>T | ENSP00000452016.1:p.Gly21= |