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_000008.11:g.37965976G= , CM000670.2:g.37965976G= | GRCh38 |
| NC_000008.10:g.37823494G= , CM000670.1:g.37823494G= | GRCh37 |
| NC_000008.9:g.37942651G= | NCBI36 |
| NG_011936.1:g.5691C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.494C= MANE Select | NP_000016.1:p.Ser165= |
| ENST00000345060.5:c.494C= MANE Select | ENSP00000343782.3:p.Ser165= |
| NM_000025.2:c.494C= | NP_000016.1:p.Ser165= |
| ENST00000345060.4:c.494C= | ENSP00000343782.3:p.Ser165= |
| ENST00000520341.2:n.622C= | |
| ENST00000614635.1:c.494C= | ENSP00000480325.1:p.Ser165= |