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_000002.12:g.84443338T>A , CM000664.2:g.84443338T>A | GRCh38 |
| NC_000002.11:g.84670462T>A , CM000664.1:g.84670462T>A | GRCh37 |
| NC_000002.10:g.84523973T>A | NCBI36 |
| NG_016755.1:g.21125A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003849.4:c.264A>T MANE Select | NP_003840.2:p.Pro88= |
| ENST00000393868.7:c.264A>T MANE Select | ENSP00000377446.2:p.Pro88= |
| NM_003849.3:c.264A>T | NP_003840.2:p.Pro88= |
| ENST00000393868.6:c.264A>T | ENSP00000377446.2:p.Pro88= |
| ENST00000430989.1:n.241A>T | |
| ENST00000442240.5:c.275A>T | |
| ENST00000483605.5:n.343A>T | |
| ENST00000491642.5:n.436A>T | |
| ENST00000651342.1:c.264A>T | ENSP00000498471.1:p.Pro88= |