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_000020.11:g.10646998G>A , CM000682.2:g.10646998G>A | GRCh38 |
| NC_000020.10:g.10627646G>A , CM000682.1:g.10627646G>A | GRCh37 |
| NC_000020.9:g.10575646G>A | NCBI36 |
| NG_007496.1:g.32049C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1826C>T MANE Select | NP_000205.1:p.Ser609Leu |
| ENST00000254958.10:c.1826C>T MANE Select | ENSP00000254958.4:p.Ser609Leu |
| NM_000214.2:c.1826C>T | NP_000205.1:p.Ser609Leu |
| ENST00000254958.9:c.1826C>T | ENSP00000254958.4:p.Ser609Leu |
| ENST00000423891.6:n.1692C>T | |
| ENST00000612857.1:n.315C>T | |
| ENST00000613518.1:c.175C>T | |
| ENST00000617965.2:n.2415C>T |