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_000002.12:g.233485841G= , CM000664.2:g.233485841G= | GRCh38 |
| NC_000002.11:g.234394487G= , CM000664.1:g.234394487G= | GRCh37 |
| NC_000002.10:g.234059226G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365479.2:c.3334C= MANE Select | NP_001352408.1:p.Arg1112= |
| ENST00000678225.2:c.3334C= MANE Select | ENSP00000502952.1:p.Arg1112= |
| NM_001365479.1:c.3334C= | NP_001352408.1:p.Arg1112= |
| NM_001382295.1:c.3334C= | NP_001369224.1:p.Arg1112= |
| NM_001382296.1:c.3394C= | NP_001369225.1:p.Arg1132= |
| NM_001382298.1:c.3061C= | NP_001369227.1:p.Arg1021= |
| NM_001382302.1:c.253C= | NP_001369231.1:p.Arg85= |
| NM_018218.2:c.3367C= | NP_060688.1:p.Arg1123= |
| NM_018218.3:c.3331C= | NP_060688.2:p.Arg1111= |
| NM_018218.4:c.3331C= | NP_060688.2:p.Arg1111= |
| NR_168049.1:n.3560C= | |
| NR_168052.1:n.3590C= | |
| NR_168053.1:n.3599C= | |
| NR_168054.1:n.3273C= | |
| NR_168055.1:n.559C= | |
| NR_168056.1:n.536+23C= | |
| ENST00000251722.10:c.3331C= | ENSP00000251722.6:p.Arg1111= |
| ENST00000427112.6:c.3331C= | ENSP00000387898.2:p.Arg1111= |
| ENST00000450940.5:c.510C= | |
| ENST00000450966.5:c.3367C= | ENSP00000415434.1:p.Arg1123= |
| ENST00000454354.1:c.234C= | |
| ENST00000473191.1:n.495C= | |
| ENST00000483519.5:n.479C= | |
| ENST00000496298.5:n.530C= | |
| ENST00000678225.1:c.3334C= | ENSP00000502952.1:p.Arg1112= |
| XM_006712612.2:c.3370C= | XP_006712675.1:p.Arg1124= |
| XM_006712612.3:c.3370C= | XP_006712675.1:p.Arg1124= |
| XM_011511396.1:c.3382C= | XP_011509698.1:p.Arg1128= |
| XM_011511396.2:c.3382C= | XP_011509698.1:p.Arg1128= |
| XM_011511397.1:c.3346C= | XP_011509699.1:p.Arg1116= |
| XM_011511397.2:c.3346C= | XP_011509699.1:p.Arg1116= |
| XM_011511399.1:c.3073C= | XP_011509701.1:p.Arg1025= |
| XM_011511399.2:c.3073C= | XP_011509701.1:p.Arg1025= |
| XM_011511400.1:c.2962C= | XP_011509702.1:p.Arg988= |
| XM_011511400.2:c.2962C= | XP_011509702.1:p.Arg988= |
| XM_011511402.1:c.1828C= | XP_011509704.1:p.Arg610= |
| XM_017004427.1:c.2311C= | XP_016859916.1:p.Arg771= |
| XM_017004428.1:c.1828C= | XP_016859917.1:p.Arg610= |
| XR_001738818.1:n.3437C= | |
| XR_001738819.1:n.3425C= | |
| XR_001738820.1:n.3499C= |