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.1001802T= , CM000666.2:g.1001802T= | GRCh38 |
| NC_000004.11:g.995590T= , CM000666.1:g.995590T= | GRCh37 |
| NC_000004.10:g.985590T= | NCBI36 |
| NG_008103.1:g.19806T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000203.5:c.713T= MANE Select | NP_000194.2:p.Leu238= |
| ENST00000514224.2:c.713T= MANE Select | ENSP00000425081.2:p.Leu238= |
| NM_000203.4:c.713T= | NP_000194.2:p.Leu238= |
| NM_001363576.1:c.317T= | NP_001350505.1:p.Leu106= |
| NR_110313.1:n.801T= | |
| ENST00000247933.8:c.713T= | ENSP00000247933.4:p.Leu238= |
| ENST00000247933.9:c.713T= | ENSP00000247933.4:p.Leu238= |
| ENST00000502910.5:c.572T= | ENSP00000422952.1:p.Leu191= |
| ENST00000509948.5:c.506T= | ENSP00000424227.1:p.Leu169= |
| ENST00000514192.5:c.530T= | ENSP00000423685.1:p.Leu177= |
| ENST00000514224.1:c.317T= | ENSP00000425081.1:p.Leu106= |
| ENST00000514698.5:n.613T= | |
| ENST00000652070.1:n.769T= | |
| XM_006713882.2:c.317T= | XP_006713945.1:p.Leu106= |
| XM_011513459.1:c.572T= | XP_011511761.1:p.Leu191= |
| XM_011513460.1:c.572T= | XP_011511762.1:p.Leu191= |
| XM_011513461.1:c.506T= | XP_011511763.1:p.Leu169= |
| XM_011513461.2:c.506T= | XP_011511763.1:p.Leu169= |
| XM_011513462.1:c.425T= | XP_011511764.1:p.Leu142= |
| XM_011513463.1:c.425T= | XP_011511765.1:p.Leu142= |
| XM_017008163.1:c.-248T= | XP_016863652.1:n.-248T= |
| XR_924947.1:n.782T= |