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_000020.11:g.10649562G>A , CM000682.2:g.10649562G>A | GRCh38 |
| NC_000020.10:g.10630210G>A , CM000682.1:g.10630210G>A | GRCh37 |
| NC_000020.9:g.10578210G>A | NCBI36 |
| NG_007496.1:g.29485C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1308C>T MANE Select | NP_000205.1:p.Cys436= |
| ENST00000254958.10:c.1308C>T MANE Select | ENSP00000254958.4:p.Cys436= |
| NM_000214.2:c.1308C>T | NP_000205.1:p.Cys436= |
| ENST00000254958.9:c.1308C>T | ENSP00000254958.4:p.Cys436= |
| ENST00000423891.6:n.1174C>T | |
| ENST00000617965.2:n.1897C>T | |
| ENST00000620743.1:n.27C>T | |
| ENST00000622545.1:c.85C>T |