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_000011.10:g.69648142G>A , CM000673.2:g.69648142G>A | GRCh38 |
| NC_000011.9:g.69462910G>A , CM000673.1:g.69462910G>A | GRCh37 |
| NC_000011.8:g.69172091G>A | NCBI36 |
| NG_007375.1:g.12038G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053056.3:c.723G>A MANE Select | NP_444284.1:p.Pro241= |
| ENST00000227507.3:c.723G>A MANE Select | ENSP00000227507.2:p.Pro241= |
| NM_053056.2:c.723G>A | NP_444284.1:p.Pro241= |
| ENST00000227507.2:c.723G>A | ENSP00000227507.2:p.Pro241= |
| ENST00000536559.1:c.*143G>A | ENSP00000438482.1:n.*143G>A |
| ENST00000542367.1:n.186G>A | |
| ENST00000545484.1:n.429G>A | |
| XM_006718653.2:c.747G>A | XP_006718716.1:p.Pro249= |