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_000010.11:g.86163647G= , CM000672.2:g.86163647G= | GRCh38 |
| NC_000010.10:g.87923404G= , CM000672.1:g.87923404G= | GRCh37 |
| NC_000010.9:g.87913384G= | NCBI36 |
| NG_011875.1:g.207847C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017551.3:c.521-24623C= MANE Select | NP_060021.1:n.521-24623C= |
| ENST00000327946.12:c.521-24623C= MANE Select | ENSP00000330148.7:n.521-24623C= |
| NM_017551.2:c.521-24623C= | NP_060021.1:n.521-24623C= |
| ENST00000327946.11:c.521-24623C= | ENSP00000330148.7:n.521-24623C= |
| ENST00000464741.2:c.521-24623C= | ENSP00000433064.1:n.521-24623C= |
| XM_011539720.1:c.521-24623C= | XP_011538022.1:n.521-24623C= |
| XM_011539720.2:c.521-24623C= | XP_011538022.1:n.521-24623C= |