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_000003.12:g.12590948A= , CM000665.2:g.12590948A= | GRCh38 |
| NC_000003.11:g.12632447A= , CM000665.1:g.12632447A= | GRCh37 |
| NC_000003.10:g.12607447A= | NCBI36 |
| NG_007467.1:g.78232T= , LRG_413:g.78232T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*885T= | ENSP00000401088.1:n.*885T= | |
| ENST00000432427.3:c.537T= | ||
| ENST00000460610.2:n.14T= | ||
| ENST00000465826.6:n.811T= | ||
| ENST00000475353.2:n.1142T= | ||
| ENST00000494557.2:n.1031T= | ||
| ENST00000684903.1:c.*897T= | ENSP00000508612.1:n.*897T= | |
| ENST00000685348.1:c.*897T= | ENSP00000510285.1:n.*897T= | |
| ENST00000685437.1:c.1121T= | ENSP00000508794.1:p.Leu374= | |
| ENST00000685653.1:c.1220T= | ENSP00000509968.1:p.Leu407= | |
| ENST00000685738.1:c.*184T= | ENSP00000510156.1:n.*184T= | |
| ENST00000686409.1:n.2271T= | ||
| ENST00000686455.1:n.1583T= | ||
| ENST00000686762.1:c.1220T= | ENSP00000509767.1:p.Leu407= | |
| ENST00000687257.1:n.1456T= | ||
| ENST00000687326.1:c.*154T= | ENSP00000509665.1:n.*154T= | |
| ENST00000687505.1:n.1338T= | ||
| ENST00000687923.1:c.1109T= | ENSP00000510255.1:p.Leu370= | |
| ENST00000687940.1:n.1597T= | ||
| ENST00000688269.1:n.1816T= | ||
| ENST00000688326.1:c.653T= | ||
| ENST00000688444.1:n.1546T= | ||
| ENST00000688543.1:c.1121T= | ENSP00000509612.1:p.Leu374= | |
| ENST00000688625.1:c.*798T= | ENSP00000509522.1:n.*798T= | |
| ENST00000688803.1:n.1451T= | ||
| ENST00000688914.1:n.206T= | ||
| ENST00000689097.1:c.*897T= | ENSP00000509756.1:n.*897T= | |
| ENST00000689389.1:c.1193+760T= | ENSP00000510213.1:n.1193+760T= | |
| ENST00000689418.1:c.*897T= | ENSP00000509467.1:n.*897T= | |
| ENST00000689481.1:c.*897T= | ENSP00000510248.1:n.*897T= | |
| ENST00000689540.1:n.1370T= | ||
| ENST00000689876.1:c.1220T= | ENSP00000508535.1:p.Leu407= | |
| ENST00000689914.1:c.*154T= | ENSP00000509847.1:n.*154T= | |
| ENST00000690397.1:c.1109T= | ENSP00000508730.1:p.Leu370= | |
| ENST00000690460.1:c.1208T= | ENSP00000509106.1:p.Leu403= | |
| ENST00000690585.1:c.112T= | ||
| ENST00000690625.1:n.2256T= | ||
| ENST00000691396.1:c.*1072T= | ENSP00000510712.1:n.*1072T= | |
| ENST00000691724.1:c.*177T= | ENSP00000509255.1:n.*177T= | |
| ENST00000691779.1:c.*798T= | ENSP00000508592.1:n.*798T= | |
| ENST00000691888.1:c.112T= | ||
| ENST00000691899.1:c.1220T= | ENSP00000508763.1:p.Leu407= | |
| ENST00000692069.1:n.1786T= | ||
| ENST00000692093.1:c.1121T= | ENSP00000509669.1:p.Leu374= | |
| ENST00000692311.1:n.2044T= | ||
| ENST00000692558.1:n.1585T= | ||
| ENST00000692773.1:c.*957T= | ENSP00000509055.1:n.*957T= | |
| ENST00000692830.1:c.*965T= | ENSP00000509461.1:n.*965T= | |
| ENST00000693069.1:c.*154T= | ENSP00000510072.1:n.*154T= | |
| ENST00000693312.1:c.995T= | ENSP00000508686.1:p.Leu332= | |
| ENST00000693664.1:c.1220T= | ENSP00000509614.1:p.Leu407= | |
| ENST00000693705.1:c.*897T= | ENSP00000510697.1:n.*897T= | |
| ENST00000251849.9:c.1220T= MANE Select | ENSP00000251849.4:p.Leu407= | |
| ENST00000442415.7:c.1280T= | ENSP00000401888.2:p.Leu427= | |
| ENST00000251849.8:c.1220T= | ENSP00000251849.4:p.Leu407= | |
| ENST00000423275.5:c.*897T= | ENSP00000401088.1:n.*897T= | |
| ENST00000432427.2:c.857T= | ENSP00000398591.2:p.Leu286= | |
| ENST00000442415.6:c.1280T= | ENSP00000401888.2:p.Leu427= | |
| ENST00000460610.1:n.177T= | ||
| ENST00000465826.5:n.577T= | ||
| ENST00000475353.1:n.388T= | ||
| ENST00000494557.1:n.236T= | ||
| NM_002880.3:c.1220T= , LRG_413t1:c.1220T= | NP_002871.1:p.Leu407= | |
| XM_005265355.1:c.1220T= | XP_005265412.1:p.Leu407= | |
| XM_005265357.1:c.1121T= | XP_005265414.1:p.Leu374= | |
| XM_005265358.3:c.977T= | XP_005265415.1:p.Leu326= | |
| XM_005265359.3:c.878T= | XP_005265416.1:p.Leu293= | |
| XM_005265360.1:c.1220T= | XP_005265417.1:p.Leu407= | |
| XM_011533974.1:c.1220T= | XP_011532276.1:p.Leu407= | |
| XM_011533975.1:c.977T= | XP_011532277.1:p.Leu326= | |
| NM_001354689.1:c.1280T= | NP_001341618.1:p.Leu427= | |
| NM_001354690.1:c.1220T= | NP_001341619.1:p.Leu407= | |
| NM_001354691.1:c.977T= | NP_001341620.1:p.Leu326= | |
| NM_001354692.1:c.977T= | NP_001341621.1:p.Leu326= | |
| NM_001354693.1:c.1121T= | NP_001341622.1:p.Leu374= | |
| NM_001354694.1:c.1037T= | NP_001341623.1:p.Leu346= | |
| NM_001354695.1:c.878T= | NP_001341624.1:p.Leu293= | |
| NR_148940.1:n.1748T= | ||
| NR_148941.1:n.1694T= | ||
| NR_148942.1:n.1633T= | ||
| XM_011533974.3:c.1220T= | XP_011532276.1:p.Leu407= | |
| XM_017006966.1:c.1121T= | XP_016862455.1:p.Leu374= | |
| XR_001740227.1:n.1511T= | ||
| NM_001354689.3:c.1280T= | NP_001341618.1:p.Leu427= | |
| NM_001354690.2:c.1220T= | NP_001341619.1:p.Leu407= | |
| NM_001354691.2:c.977T= | NP_001341620.1:p.Leu326= | |
| NM_001354692.2:c.977T= | NP_001341621.1:p.Leu326= | |
| NM_001354693.2:c.1121T= | NP_001341622.1:p.Leu374= | |
| NM_001354694.2:c.1037T= | NP_001341623.1:p.Leu346= | |
| NM_001354695.2:c.878T= | NP_001341624.1:p.Leu293= | |
| NR_148940.2:n.1664T= | ||
| NR_148941.2:n.1610T= | ||
| NR_148942.2:n.1549T= | ||
| NM_001354690.3:c.1220T= | NP_001341619.1:p.Leu407= | |
| NM_001354691.3:c.977T= | NP_001341620.1:p.Leu326= | |
| NM_001354692.3:c.977T= | NP_001341621.1:p.Leu326= | |
| NM_001354693.3:c.1121T= | NP_001341622.1:p.Leu374= | |
| NM_001354694.3:c.1037T= | NP_001341623.1:p.Leu346= | |
| NM_001354695.3:c.878T= | NP_001341624.1:p.Leu293= | |
| NM_002880.4:c.1220T= MANE Select | NP_002871.1:p.Leu407= | |
| NR_148940.3:n.1664T= | ||
| NR_148941.3:n.1610T= | ||
| NR_148942.3:n.1549T= |