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_000004.12:g.52029808A= , CM000666.2:g.52029808A= | GRCh38 |
| NC_000004.11:g.52895974A= , CM000666.1:g.52895974A= | GRCh37 |
| NC_000004.10:g.52590731A= | NCBI36 |
| NG_008891.1:g.13512T= , LRG_204:g.13512T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.299T= MANE Select | NP_000223.1:p.Met100= |
| ENST00000381431.10:c.299T= MANE Select | ENSP00000370839.6:p.Met100= |
| NM_000232.4:c.299T= , LRG_204t1:c.299T= | NP_000223.1:p.Met100= |
| ENST00000381431.9:c.299T= | ENSP00000370839.5:p.Met100= |
| ENST00000506357.5:c.382T= | |
| ENST00000514133.1:c.376T= | ENSP00000425818.1:n.376T= |
| XM_006714049.2:c.2T= | XP_006714112.1:p.Met1= |
| XM_011534403.1:c.89T= | XP_011532705.1:p.Met30= |
| XM_011534404.1:c.2T= | XP_011532706.1:p.Met1= |