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_000022.11:g.35387420A= , CM000684.2:g.35387420A= | GRCh38 |
| NC_000022.10:g.35783413A= , CM000684.1:g.35783413A= | GRCh37 |
| NC_000022.9:g.34113413A= | NCBI36 |
| NG_023030.1:g.11354A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002133.3:c.636+244A= MANE Select | NP_002124.1:n.636+244A= |
| ENST00000216117.9:c.636+244A= MANE Select | ENSP00000216117.8:n.636+244A= |
| NM_002133.2:c.636+244A= | NP_002124.1:n.636+244A= |
| ENST00000216117.8:c.636+244A= | ENSP00000216117.8:n.636+244A= |
| ENST00000481190.2:c.*541+244A= | ENSP00000503987.1:n.*541+244A= |
| ENST00000494998.1:n.137+244A= | |
| ENST00000677931.1:c.145-2444A= | ENSP00000502849.1:n.145-2444A= |
| ENST00000678411.1:c.243+244A= | ENSP00000503526.1:n.243+244A= |
| ENST00000679074.1:c.636+244A= | ENSP00000503459.1:n.636+244A= |