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.21561079A>G , CM000669.2:g.21561079A>G | GRCh38 |
| NC_000007.13:g.21600697A>G , CM000669.1:g.21600697A>G | GRCh37 |
| NC_000007.12:g.21567222A>G | NCBI36 |
| NG_012886.2:g.22865A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.891A>G MANE Select | NP_001264044.1:p.Ala297= |
| ENST00000409508.8:c.891A>G MANE Select | ENSP00000475939.1:p.Ala297= |
| NM_001277115.1:c.891A>G | NP_001264044.1:p.Ala297= |
| ENST00000328843.10:c.891A>G | ENSP00000330671.7:p.Ala297= |
| ENST00000409508.7:c.891A>G | ENSP00000475939.1:p.Ala297= |
| ENST00000483691.1:n.87A>G | |
| ENST00000620169.4:c.891A>G | ENSP00000481693.1:p.Ala297= |
| XR_001745114.1:n.2794-839T>C | |
| XR_927090.1:n.564-839T>C |