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_000001.11:g.162143120C= , CM000663.2:g.162143120C= | GRCh38 |
| NC_000001.10:g.162112910C= , CM000663.1:g.162112910C= | GRCh37 |
| NC_000001.9:g.160379534C= | NCBI36 |
| NG_015979.1:g.78330C= | |
| NG_015979.2:g.78330C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014697.3:c.106-11285C= MANE Select | NP_055512.1:n.106-11285C= |
| ENST00000361897.10:c.106-11285C= MANE Select | ENSP00000355133.5:n.106-11285C= |
| NM_001164757.1:c.106-11285C= | NP_001158229.1:n.106-11285C= |
| NM_001164757.2:c.106-11285C= | NP_001158229.1:n.106-11285C= |
| NM_014697.2:c.106-11285C= | NP_055512.1:n.106-11285C= |
| ENST00000361897.9:c.106-11285C= | ENSP00000355133.5:n.106-11285C= |
| ENST00000430120.3:c.106-11285C= | ENSP00000396713.3:n.106-11285C= |
| ENST00000530878.5:c.106-11285C= | ENSP00000431586.1:n.106-11285C= |
| XR_002958375.1:n.3671-9994G= | |
| XR_002958378.1:n.3670+25162G= | |
| XR_922217.1:n.713-9994G= | |
| XR_922219.1:n.712+25162G= | |
| XR_922221.1:n.712+25162G= |