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_000023.11:g.123464905T= , CM000685.2:g.123464905T= | GRCh38 |
| NC_000023.10:g.122598756T= , CM000685.1:g.122598756T= | GRCh37 |
| NC_000023.9:g.122426437T= | NCBI36 |
| NG_009377.2:g.285663T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007325.5:c.2117T= MANE Select | NP_015564.5:p.Met706= |
| ENST00000620443.2:c.2117T= MANE Select | ENSP00000478489.1:p.Met706= |
| NM_000828.5:c.2117T= MANE Plus Clinical | NP_000819.4:p.Met706= |
| ENST00000622768.5:c.2117T= MANE Plus Clinical | ENSP00000481554.1:p.Met706= |
| NM_000828.4:c.2117T= | NP_000819.3:p.Met706= |
| NM_007325.4:c.2117T= | NP_015564.4:p.Met706= |
| ENST00000541091.5:c.2117T= | ENSP00000446440.2:p.Met706= |
| ENST00000620443.1:c.2117T= | ENSP00000478489.1:p.Met706= |
| ENST00000620581.4:c.2117T= | ENSP00000481875.1:p.Met706= |
| ENST00000622768.4:c.2117T= | ENSP00000481554.1:p.Met706= |
| XR_938574.1:n.4959+1849A= |