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_000012.12:g.4370564G>T , CM000674.2:g.4370564G>T | GRCh38 |
| NC_000012.11:g.4479730G>T , CM000674.1:g.4479730G>T | GRCh37 |
| NC_000012.10:g.4349991G>T | NCBI36 |
| NG_007087.1:g.14165C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020638.3:c.535C>A MANE Select | NP_065689.1:p.Arg179= |
| ENST00000237837.2:c.535C>A MANE Select | ENSP00000237837.1:p.Arg179= |
| NM_020638.2:c.535C>A | NP_065689.1:p.Arg179= |
| ENST00000237837.1:c.535C>A | ENSP00000237837.1:p.Arg179= |
| ENST00000648100.1:c.*1967+4282G>T | ENSP00000497536.1:n.*1967+4282G>T |
| ENST00000674624.1:c.*1204+4282G>T | ENSP00000501898.1:n.*1204+4282G>T |