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_000001.11:g.2028260G= , CM000663.2:g.2028260G= | GRCh38 |
| NC_000001.10:g.1959699G= , CM000663.1:g.1959699G= | GRCh37 |
| NC_000001.9:g.1949559G= | NCBI36 |
| NG_008168.1:g.13932G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000815.5:c.659G= MANE Select | NP_000806.2:p.Arg220= |
| ENST00000378585.7:c.659G= MANE Select | ENSP00000367848.4:p.Arg220= |
| NM_000815.4:c.659G= | NP_000806.2:p.Arg220= |
| ENST00000378585.5:c.659G= | ENSP00000367848.4:p.Arg220= |
| ENST00000638411.1:c.690G= | ENSP00000491632.1:p.Pro230= |
| ENST00000638604.1:n.1218G= | |
| ENST00000638763.1:c.402G= | |
| ENST00000638771.1:c.659G= | ENSP00000492435.1:p.Arg220= |
| ENST00000638804.1:c.137G= | ENSP00000491871.1:p.Arg46= |
| ENST00000639045.1:c.*645G= | ENSP00000491997.1:n.*645G= |
| ENST00000639070.1:n.1238G= | |
| ENST00000639777.1:n.1263G= | |
| ENST00000640030.1:c.599G= | ENSP00000491411.1:p.Arg200= |
| ENST00000640067.1:c.743G= | ENSP00000491844.1:p.Arg248= |
| ENST00000640317.1:n.1008G= | |
| ENST00000640423.1:n.668G= | |
| ENST00000640892.1:n.1366G= | |
| ENST00000640949.1:c.659G= | ENSP00000492500.1:p.Arg220= |
| ENST00000640981.1:c.466G= | |
| XM_011541194.1:c.698G= | XP_011539496.1:p.Arg233= |
| XM_011541194.3:c.698G= | XP_011539496.1:p.Arg233= |
| XM_017000936.1:c.1364G= | XP_016856425.1:p.Arg455= |