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.30459095C= , CM000675.2:g.30459095C= | GRCh38 |
| NC_000013.10:g.31033232C= , CM000675.1:g.31033232C= | GRCh37 |
| NC_000013.9:g.29931232C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002128.7:c.*2262G= MANE Select | NP_002119.1:n.*2262G= |
| ENST00000341423.10:c.*2262G= MANE Select | ENSP00000345347.5:n.*2262G= |
| NM_001313892.1:c.*2262G= | NP_001300821.1:n.*2262G= |
| NM_001313892.2:c.*2262G= | NP_001300821.1:n.*2262G= |
| NM_001313893.1:c.*2262G= | NP_001300822.1:n.*2262G= |
| NM_001363661.1:c.*2483G= | NP_001350590.1:n.*2483G= |
| NM_001363661.2:c.*2483G= | NP_001350590.1:n.*2483G= |
| NM_001370339.1:c.*2588G= | NP_001357268.1:n.*2588G= |
| NM_001370340.1:c.*2262G= | NP_001357269.1:n.*2262G= |
| NM_001370341.1:c.*2262G= | NP_001357270.1:n.*2262G= |
| NM_002128.4:c.*2262G= | NP_002119.1:n.*2262G= |
| NM_002128.5:c.*2262G= | NP_002119.1:n.*2262G= |
| NM_002128.6:c.*2262G= | NP_002119.1:n.*2262G= |
| ENST00000341423.9:c.*2262G= | ENSP00000345347.5:n.*2262G= |
| ENST00000405805.5:c.*2262G= | ENSP00000384678.1:n.*2262G= |