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.48342607T>C , CM000675.2:g.48342607T>C | GRCh38 |
| NC_000013.10:g.48916743T>C , CM000675.1:g.48916743T>C | GRCh37 |
| NC_000013.9:g.47814744T>C | NCBI36 |
| NG_009009.1:g.43861T>C , LRG_517:g.43861T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.273T>C MANE Select | NP_000312.2:p.Tyr91= |
| ENST00000267163.6:c.273T>C MANE Select | ENSP00000267163.4:p.Tyr91= |
| NM_000321.2:c.273T>C , LRG_517t1:c.273T>C | NP_000312.2:p.Tyr91= |
| ENST00000267163.4:c.273T>C | ENSP00000267163.4:p.Tyr91= |
| ENST00000467505.5:c.138-17410T>C | ENSP00000434702.1:n.138-17410T>C |
| ENST00000525036.1:n.435T>C | |
| ENST00000650461.1:c.273T>C | ENSP00000497193.1:p.Tyr91= |
| XM_011535171.1:c.12T>C | XP_011533473.1:p.Tyr4= |
| XM_011535171.2:c.12T>C | XP_011533473.1:p.Tyr4= |