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.6123423G>T , CM000682.2:g.6123423G>T | GRCh38 |
| NC_000020.10:g.6104070G>T , CM000682.1:g.6104070G>T | GRCh37 |
| NC_000020.9:g.6052070G>T | NCBI36 |
| NG_016213.1:g.5122C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.4:c.-668C>A | NP_060141.3:n.-668C>A |
| ENST00000217289.8:c.-668C>A | ENSP00000217289.4:n.-668C>A |
| XM_024451935.1:c.-671C>A | XP_024307703.1:n.-671C>A |