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_000016.10:g.88725505C= , CM000678.2:g.88725505C= | GRCh38 |
| NC_000016.9:g.88791913C= , CM000678.1:g.88791913C= | GRCh37 |
| NC_000016.8:g.87319414C= | NCBI36 |
| NG_042229.1:g.64716G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001142864.4:c.4073G= MANE Select | NP_001136336.2:p.Arg1358= |
| ENST00000301015.14:c.4073G= MANE Select | ENSP00000301015.9:p.Arg1358= |
| NM_001142864.2:c.4073G= | NP_001136336.2:p.Arg1358= |
| NM_001142864.3:c.4073G= | NP_001136336.2:p.Arg1358= |
| ENST00000301015.13:c.4073G= | ENSP00000301015.9:p.Arg1358= |
| ENST00000474606.1:c.166G= | |
| ENST00000475586.1:n.446G= |