SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58909700C= , CM000682.2:g.58909700C= | GRCh38 |
| NC_000020.10:g.57484755C= , CM000682.1:g.57484755C= | GRCh37 |
| NC_000020.9:g.56918150C= | NCBI36 |
| NG_016194.1:g.74961C= | |
| NG_016194.2:g.74961C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2619C= | ENSP00000265621.6:p.Ile873= | |
| ENST00000419558.7:c.*593C= | ENSP00000416234.2:n.*593C= | |
| ENST00000453292.7:c.1334C= | ENSP00000392000.2:n.1334C= | |
| ENST00000462499.6:c.516C= | ENSP00000499758.2:p.Ile172= | |
| ENST00000464624.7:c.*577C= | ENSP00000499607.2:n.*577C= | |
| ENST00000464788.6:c.558C= | ENSP00000499239.2:p.Ile186= | |
| ENST00000467227.6:c.516C= | ENSP00000499681.2:p.Ile172= | |
| ENST00000467321.6:c.558C= | ENSP00000499523.2:p.Ile186= | |
| ENST00000468895.6:c.735C= | ENSP00000499551.2:p.Ile245= | |
| ENST00000469431.6:c.558C= | ENSP00000499654.2:p.Ile186= | |
| ENST00000470512.6:c.561C= | ENSP00000499552.2:p.Ile187= | |
| ENST00000472183.6:c.558C= | ENSP00000499673.2:p.Ile186= | |
| ENST00000475610.2:n.1241C= | ||
| ENST00000476935.6:c.513C= | ENSP00000499409.2:p.Ile171= | |
| ENST00000478585.6:c.516C= | ENSP00000499762.2:p.Ile172= | |
| ENST00000480232.6:c.561C= | ENSP00000499545.2:p.Ile187= | |
| ENST00000481039.6:c.516C= | ENSP00000499767.2:p.Ile172= | |
| ENST00000482112.6:c.513C= | ENSP00000499794.2:p.Ile171= | |
| ENST00000485673.6:c.516C= | ENSP00000499334.2:p.Ile172= | |
| ENST00000488546.6:c.516C= | ENSP00000499332.2:p.Ile172= | |
| ENST00000488652.6:c.558C= | ENSP00000499435.2:p.Ile186= | |
| ENST00000492907.6:c.516C= | ENSP00000499443.2:p.Ile172= | |
| ENST00000603546.2:c.558C= | ENSP00000474802.2:p.Ile186= | |
| ENST00000604005.6:c.558C= | ENSP00000474219.2:p.Ile186= | |
| ENST00000663479.2:c.561C= | ENSP00000499353.2:p.Ile187= | |
| ENST00000667293.2:c.558C= | ENSP00000499293.2:p.Ile186= | |
| ENST00000676826.2:c.2667C= | ENSP00000504675.2:p.Ile889= | |
| ENST00000682092.1:n.5019C= | ||
| ENST00000682134.1:n.2661C= | ||
| ENST00000682411.1:n.2830C= | ||
| ENST00000682590.1:n.4922C= | ||
| ENST00000682680.1:n.4936C= | ||
| ENST00000682803.1:c.408C= | ENSP00000507069.1:p.Ile136= | |
| ENST00000682829.1:n.3063C= | ||
| ENST00000682917.1:n.1263C= | ||
| ENST00000682986.1:n.5152C= | ||
| ENST00000683015.1:c.1505C= | ENSP00000506815.1:n.1505C= | |
| ENST00000683632.1:n.5265C= | ||
| ENST00000683932.1:n.6511C= | ||
| ENST00000684284.1:n.3113C= | ||
| ENST00000684466.1:n.1374C= | ||
| ENST00000684644.1:n.5055C= | ||
| ENST00000684761.1:n.1228C= | ||
| ENST00000306090.12:c.639C= | ENSP00000304472.12:p.Ile213= | |
| ENST00000354359.12:c.738C= | ENSP00000346328.7:p.Ile246= | |
| ENST00000371085.8:c.735C= MANE Select | ENSP00000360126.3:p.Ile245= | |
| ENST00000371100.9:c.2664C= MANE Plus Clinical | ENSP00000360141.3:p.Ile888= | |
| ENST00000656419.1:c.264C= | ENSP00000499614.1:p.Ile88= | |
| ENST00000657090.1:c.558C= | ENSP00000499380.1:p.Ile186= | |
| ENST00000667293.1:c.606C= | ENSP00000499293.1:p.Ile202= | |
| ENST00000265620.11:c.690C= | ENSP00000265620.7:p.Ile230= | |
| ENST00000306090.11:c.94-67C= | ENSP00000304472.11:n.94-67C= | |
| ENST00000313949.11:c.*638C= | ENSP00000323571.7:n.*638C= | |
| ENST00000354359.11:c.738C= | ENSP00000346328.7:p.Ile246= | |
| ENST00000371075.7:c.*641C= MANE Plus Clinical | ENSP00000360115.3:n.*641C= | |
| ENST00000371085.7:c.735C= | ENSP00000360126.3:p.Ile245= | |
| ENST00000371095.7:c.693C= | ENSP00000360136.3:p.Ile231= | |
| ENST00000371100.8:c.2664C= | ENSP00000360141.3:p.Ile888= | |
| ENST00000371102.8:c.2622C= | ENSP00000360143.4:p.Ile874= | |
| ENST00000464624.6:n.2951C= | ||
| ENST00000470512.5:n.809C= | ||
| ENST00000476196.5:n.1028C= | ||
| ENST00000476935.5:n.724C= | ||
| ENST00000477931.5:n.850C= | ||
| ENST00000479025.1:n.451C= | ||
| ENST00000480232.5:n.754C= | ||
| ENST00000480975.5:n.734C= | ||
| ENST00000481039.5:n.652C= | ||
| ENST00000487862.5:n.969C= | ||
| ENST00000487981.5:n.569C= | ||
| ENST00000488546.5:n.594C= | ||
| ENST00000488652.5:n.825C= | ||
| ENST00000492907.5:n.686C= | ||
| ENST00000493958.5:n.458C= | ||
| ENST00000494081.5:n.290C= | ||
| ENST00000496934.5:n.2024C= | ||
| NM_000516.4:c.735C= | NP_000507.1:p.Ile245= | |
| NM_000516.5:c.735C= | NP_000507.1:p.Ile245= | |
| NM_001077488.2:c.738C= | NP_001070956.1:p.Ile246= | |
| NM_001077488.3:c.738C= | NP_001070956.1:p.Ile246= | |
| NM_001077489.2:c.690C= | NP_001070957.1:p.Ile230= | |
| NM_001077489.3:c.690C= | NP_001070957.1:p.Ile230= | |
| NM_001077490.1:c.*596C= | NP_001070958.1:n.*596C= | |
| NM_001077490.2:c.*596C= | NP_001070958.1:n.*596C= | |
| NM_001309840.1:c.558C= | NP_001296769.1:p.Ile186= | |
| NM_001309861.1:c.558C= | NP_001296790.1:p.Ile186= | |
| NM_016592.2:c.*641C= | NP_057676.1:n.*641C= | |
| NM_016592.3:c.*641C= | NP_057676.1:n.*641C= | |
| NM_080425.2:c.2664C= | NP_536350.2:p.Ile888= | |
| NM_080425.3:c.2664C= | NP_536350.2:p.Ile888= | |
| NM_080426.2:c.693C= | NP_536351.1:p.Ile231= | |
| NM_080426.3:c.693C= | NP_536351.1:p.Ile231= | |
| NR_003259.1:c.-4294966471C= | ||
| XM_017027812.2:c.2667C= | XP_016883301.1:p.Ile889= | |
| XM_017027813.2:c.2622C= | XP_016883302.1:p.Ile874= | |
| XM_017027814.2:c.2619C= | XP_016883303.1:p.Ile873= | |
| XM_017027815.1:c.594C= | XP_016883304.1:p.Ile198= | |
| XM_017027816.1:c.513C= | XP_016883305.1:p.Ile171= | |
| XM_017027817.1:c.513C= | XP_016883306.1:p.Ile171= | |
| XM_017027818.2:c.513C= | XP_016883307.1:p.Ile171= | |
| XM_017027819.1:c.513C= | XP_016883308.1:p.Ile171= | |
| XM_017027820.1:c.513C= | XP_016883309.1:p.Ile171= | |
| XM_024451872.1:c.639C= | XP_024307640.1:p.Ile213= | |
| XM_024451873.1:c.558C= | XP_024307641.1:p.Ile186= | |
| XM_024451874.1:c.558C= | XP_024307642.1:p.Ile186= | |
| XM_024451875.1:c.558C= | XP_024307643.1:p.Ile186= | |
| XR_002958471.1:n.1442C= | ||
| NM_000516.6:c.735C= | NP_000507.1:p.Ile245= | |
| NM_001077488.4:c.738C= | NP_001070956.1:p.Ile246= | |
| NM_001077489.4:c.690C= | NP_001070957.1:p.Ile230= | |
| NM_001309840.2:c.558C= | NP_001296769.1:p.Ile186= | |
| NM_001309861.2:c.558C= | NP_001296790.1:p.Ile186= | |
| NM_016592.4:c.*641C= | NP_057676.1:n.*641C= | |
| NM_080426.4:c.693C= | NP_536351.1:p.Ile231= | |
| NM_000516.7:c.735C= MANE Select | NP_000507.1:p.Ile245= | |
| NM_001077488.5:c.738C= | NP_001070956.1:p.Ile246= | |
| NM_001077490.3:c.*596C= | NP_001070958.1:n.*596C= | |
| NM_016592.5:c.*641C= MANE Plus Clinical | NP_057676.1:n.*641C= | |
| NM_080425.4:c.2664C= MANE Plus Clinical | NP_536350.2:p.Ile888= |