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.86087202C= , CM000672.2:g.86087202C= | GRCh38 |
| NC_000010.10:g.87846959C= , CM000672.1:g.87846959C= | GRCh37 |
| NC_000010.9:g.87836939C= | NCBI36 |
| NG_011875.1:g.284292G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017551.3:c.726+51617G= MANE Select | NP_060021.1:n.726+51617G= |
| ENST00000327946.12:c.726+51617G= MANE Select | ENSP00000330148.7:n.726+51617G= |
| NM_017551.2:c.726+51617G= | NP_060021.1:n.726+51617G= |
| ENST00000327946.11:c.726+51617G= | ENSP00000330148.7:n.726+51617G= |
| ENST00000464741.2:c.726+51617G= | ENSP00000433064.1:n.726+51617G= |
| XM_011539720.1:c.726+51617G= | XP_011538022.1:n.726+51617G= |
| XM_011539720.2:c.726+51617G= | XP_011538022.1:n.726+51617G= |