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_000023.11:g.43949887G>A , CM000685.2:g.43949887G>A | GRCh38 |
| NC_000023.10:g.43809133G>A , CM000685.1:g.43809133G>A | GRCh37 |
| NC_000023.9:g.43694077G>A | NCBI36 |
| NG_009832.1:g.28789C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000266.4:c.314C>T (NDP) MANE Select | NP_000257.1:p.Ala105Val |
| ENST00000642620.1:c.314C>T (NDP) MANE Select | ENSP00000495972.1:p.Ala105Val |
| NM_000266.3:c.314C>T (NDP) | NP_000257.1:p.Ala105Val |
| NR_046631.1:n.156G>A (NDP-AS1) | |
| ENST00000378062.5:c.314C>T (NDP) | ENSP00000367301.5:p.Ala105Val |
| ENST00000470584.1:n.358C>T (NDP) | |
| ENST00000647044.1:c.314C>T (NDP) | ENSP00000495811.1:p.Ala105Val |