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_000013.11:g.36819372T>C , CM000675.2:g.36819372T>C | GRCh38 |
| NC_000013.10:g.37393509T>C , CM000675.1:g.37393509T>C | GRCh37 |
| NC_000013.9:g.36291509T>C | NCBI36 |
| NG_007876.1:g.5171T>C , LRG_103:g.5171T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000538.4:c.15T>C (RFXAP) MANE Select | NP_000529.1:p.Gly5= |
| ENST00000255476.3:c.15T>C (RFXAP) MANE Select | ENSP00000255476.3:p.Gly5= |
| NM_000538.3:c.15T>C , LRG_103t1:c.15T>C (RFXAP) | NP_000529.1:p.Gly5= |
| ENST00000255476.2:c.15T>C (RFXAP) | ENSP00000255476.2:p.Gly5= |
| XM_011535096.1:c.1261-3231A>G (SMAD9) | XP_011533398.1:n.1261-3231A>G |