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_000005.10:g.149981738G>A , CM000667.2:g.149981738G>A | GRCh38 |
| NC_000005.9:g.149361301G>A , CM000667.1:g.149361301G>A | GRCh37 |
| NC_000005.8:g.149341494G>A | NCBI36 |
| NG_007147.2:g.22856G>A , LRG_684:g.22856G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.2145G>A MANE Select | NP_000103.2:p.Ala715= |
| ENST00000286298.5:c.2145G>A MANE Select | ENSP00000286298.4:p.Ala715= |
| NM_000112.3:c.2145G>A , LRG_684t1:c.2145G>A | NP_000103.2:p.Ala715= |
| ENST00000286298.4:c.2145G>A | ENSP00000286298.4:p.Ala715= |
| ENST00000503336.1:c.372+3387G>A | ENSP00000426053.1:n.372+3387G>A |
| XM_017009191.2:c.2145G>A | XP_016864680.1:p.Ala715= |