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_000006.12:g.28904443T>A , CM000668.2:g.28904443T>A | GRCh38 |
| NC_000006.11:g.28872220T>A , CM000668.1:g.28872220T>A | GRCh37 |
| NC_000006.10:g.28980199T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006510.5:c.1169A>T MANE Select | NP_006501.1:p.Asp390Val |
| ENST00000377199.4:c.1169A>T MANE Select | ENSP00000366404.3:p.Asp390Val |
| NM_006510.4:c.1169A>T | NP_006501.1:p.Asp390Val |
| ENST00000377194.7:c.1058+111A>T | ENSP00000366399.3:n.1058+111A>T |
| ENST00000377199.3:c.1169A>T | ENSP00000366404.3:p.Asp390Val |
| ENST00000414543.5:c.372A>T | |
| ENST00000481474.5:n.5565A>T |