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_000007.14:g.21564373G>A , CM000669.2:g.21564373G>A | GRCh38 |
| NC_000007.13:g.21603991G>A , CM000669.1:g.21603991G>A | GRCh37 |
| NC_000007.12:g.21570516G>A | NCBI36 |
| NG_012886.2:g.26159G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.1170G>A MANE Select | NP_001264044.1:p.Glu390= |
| ENST00000409508.8:c.1170G>A MANE Select | ENSP00000475939.1:p.Glu390= |
| NM_001277115.1:c.1170G>A | NP_001264044.1:p.Glu390= |
| ENST00000328843.10:c.1170G>A | ENSP00000330671.7:p.Glu390= |
| ENST00000409508.7:c.1170G>A | ENSP00000475939.1:p.Glu390= |
| ENST00000496218.1:n.80+3203G>A | |
| ENST00000620169.4:c.1170G>A | ENSP00000481693.1:p.Glu390= |
| XR_001745114.1:n.2794-4133C>T | |
| XR_927090.1:n.564-4133C>T |