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_000005.10:g.161331058T= , CM000667.2:g.161331058T= | GRCh38 |
| NC_000005.9:g.160758065T= , CM000667.1:g.160758065T= | GRCh37 |
| NC_000005.8:g.160690643T= | NCBI36 |
| NG_047050.1:g.222067A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001371727.1:c.902A= MANE Select | NP_001358656.1:p.Tyr301= |
| ENST00000393959.6:c.902A= MANE Select | ENSP00000377531.1:p.Tyr301= |
| NM_000813.2:c.902A= | NP_000804.1:p.Tyr301= |
| NM_000813.3:c.902A= | NP_000804.1:p.Tyr301= |
| NM_021911.2:c.902A= | NP_068711.1:p.Tyr301= |
| NM_021911.3:c.902A= | NP_068711.1:p.Tyr301= |
| ENST00000274547.6:c.902A= | ENSP00000274547.2:p.Tyr301= |
| ENST00000274547.7:c.902A= | ENSP00000274547.2:p.Tyr301= |
| ENST00000353437.10:c.902A= | ENSP00000274546.6:p.Tyr301= |
| ENST00000393959.5:c.902A= | ENSP00000377531.1:p.Tyr301= |
| ENST00000517547.5:c.422A= | ENSP00000429750.1:p.Tyr141= |
| ENST00000517901.5:c.713A= | ENSP00000430532.1:p.Tyr238= |
| ENST00000520240.5:c.902A= | ENSP00000429320.1:p.Tyr301= |
| ENST00000612710.1:c.713A= | ENSP00000480066.1:p.Tyr238= |
| ENST00000674514.1:n.984A= | |
| ENST00000675081.1:c.*361A= | ENSP00000502207.1:n.*361A= |
| ENST00000675303.1:c.902A= | ENSP00000502748.1:p.Tyr301= |
| ENST00000675381.1:c.650A= | ENSP00000501968.1:p.Tyr217= |
| ENST00000675746.1:c.152A= | ENSP00000502391.1:p.Tyr51= |
| ENST00000675773.1:c.902A= | ENSP00000502701.1:p.Tyr301= |
| XM_011534501.1:c.152A= | XP_011532803.1:p.Tyr51= |