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_000017.11:g.39665918G>C , CM000679.2:g.39665918G>C | GRCh38 |
| NC_000017.10:g.37822171G>C , CM000679.1:g.37822171G>C | GRCh37 |
| NC_000017.9:g.35075697G>C | NCBI36 |
| NG_008892.1:g.5573G>C , LRG_210:g.5573G>C | |
| NG_042278.1:g.2938G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003673.4:c.313G>C MANE Select | NP_003664.1:p.Glu105Gln |
| ENST00000309889.3:c.313G>C MANE Select | ENSP00000312624.2:p.Glu105Gln |
| NM_003673.3:c.313G>C , LRG_210t1:c.313G>C | NP_003664.1:p.Glu105Gln |
| ENST00000309889.2:c.313G>C | ENSP00000312624.2:p.Glu105Gln |
| ENST00000578283.1:c.241G>C | ENSP00000462787.1:p.Glu81Gln |