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_000009.12:g.131519075C= , CM000671.2:g.131519075C= | GRCh38 |
| NC_000009.11:g.134394462C= , CM000671.1:g.134394462C= | GRCh37 |
| NC_000009.10:g.133384283C= | NCBI36 |
| NG_008896.1:g.21174C= | |
| NG_008896.2:g.21174C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1324+118C= | ENSP00000343034.7:n.1324+118C= | |
| ENST00000404875.7:n.2026+118C= | ||
| ENST00000423007.6:c.1543+118C= | ENSP00000404119.2:n.1543+118C= | |
| ENST00000677295.2:c.*1830+118C= | ENSP00000504346.2:n.*1830+118C= | |
| ENST00000678264.2:c.*1669+118C= | ENSP00000503157.2:n.*1669+118C= | |
| ENST00000682070.1:n.1951+118C= | ||
| ENST00000682813.1:n.1890+118C= | ||
| ENST00000683392.1:n.4233+118C= | ||
| ENST00000683712.1:n.1891+118C= | ||
| ENST00000683900.1:n.3386+118C= | ||
| ENST00000684062.1:n.2152+118C= | ||
| ENST00000684579.1:n.3332+118C= | ||
| ENST00000684679.1:n.713+118C= | ||
| ENST00000341012.12:c.1324+118C= | ENSP00000343034.7:n.1324+118C= | |
| ENST00000372220.5:c.355+118C= | ENSP00000361294.5:n.355+118C= | |
| ENST00000372228.9:c.1552+118C= | ENSP00000361302.3:n.1552+118C= | |
| ENST00000402686.8:c.1486+118C= MANE Select | ENSP00000385797.4:n.1486+118C= | |
| ENST00000676640.1:c.1486+118C= | ENSP00000503281.1:n.1486+118C= | |
| ENST00000676803.1:c.661+118C= | ENSP00000503093.1:n.661+118C= | |
| ENST00000676835.1:c.*701+118C= | ENSP00000502911.1:n.*701+118C= | |
| ENST00000677029.1:c.1030+118C= | ENSP00000502936.1:n.1030+118C= | |
| ENST00000677099.1:c.*1196+118C= | ENSP00000504553.1:n.*1196+118C= | |
| ENST00000677216.1:c.1135+118C= | ENSP00000503772.1:n.1135+118C= | |
| ENST00000677221.1:n.511+118C= | ||
| ENST00000677295.1:c.*863+118C= | ENSP00000504346.1:n.*863+118C= | |
| ENST00000677444.1:c.1431+118C= | ||
| ENST00000677586.1:n.967+118C= | ||
| ENST00000677626.1:c.1135+118C= | ENSP00000503552.1:n.1135+118C= | |
| ENST00000677677.1:n.1446+118C= | ||
| ENST00000677853.1:c.*494+118C= | ENSP00000503488.1:n.*494+118C= | |
| ENST00000678202.1:n.645+118C= | ||
| ENST00000678264.1:c.*863+118C= | ENSP00000503157.1:n.*863+118C= | |
| ENST00000678303.1:c.1396+118C= | ENSP00000503696.1:n.1396+118C= | |
| ENST00000678366.1:c.*1735+118C= | ENSP00000504353.1:n.*1735+118C= | |
| ENST00000678546.1:c.*1431+118C= | ENSP00000503062.1:n.*1431+118C= | |
| ENST00000678548.1:c.*1558+118C= | ENSP00000503934.1:n.*1558+118C= | |
| ENST00000678626.1:n.1322+118C= | ||
| ENST00000678733.1:c.567+118C= | ||
| ENST00000678739.1:c.*1812+118C= | ENSP00000503806.1:n.*1812+118C= | |
| ENST00000678833.1:c.*934-9C= | ENSP00000503893.1:n.*934-9C= | |
| ENST00000679023.1:c.1324+118C= | ENSP00000503718.1:n.1324+118C= | |
| ENST00000679076.1:c.1105+118C= | ||
| ENST00000679111.1:c.*242+118C= | ENSP00000504257.1:n.*242+118C= | |
| ENST00000679189.1:c.1135+118C= | ENSP00000503356.1:n.1135+118C= | |
| ENST00000341012.11:c.1324+118C= | ENSP00000343034.7:n.1324+118C= | |
| ENST00000372220.4:c.349+118C= | ENSP00000361294.4:n.349+118C= | |
| ENST00000372228.7:c.1552+118C= | ENSP00000361302.3:n.1552+118C= | |
| ENST00000402686.7:c.1486+118C= | ENSP00000385797.3:n.1486+118C= | |
| ENST00000404875.6:c.1135+118C= | ENSP00000384531.2:n.1135+118C= | |
| ENST00000423007.5:c.1486+118C= | ENSP00000404119.1:n.1486+118C= | |
| ENST00000467848.1:n.190+118C= | ||
| ENST00000485278.5:n.2041+118C= | ||
| NM_001077365.1:c.1486+118C= | NP_001070833.1:n.1486+118C= | |
| NM_001077366.1:c.1324+118C= | NP_001070834.1:n.1324+118C= | |
| NM_001136113.1:c.1486+118C= | NP_001129585.1:n.1486+118C= | |
| NM_001136114.1:c.1135+118C= | NP_001129586.1:n.1135+118C= | |
| NM_007171.3:c.1552+118C= | NP_009102.3:n.1552+118C= | |
| XM_005272156.1:c.1552+118C= | XP_005272213.1:n.1552+118C= | |
| XM_005272158.1:c.1390+118C= | XP_005272215.1:n.1390+118C= | |
| XM_005272159.1:c.1201+118C= | XP_005272216.1:n.1201+118C= | |
| XM_005272162.1:c.355+118C= | XP_005272219.1:n.355+118C= | |
| XM_006716932.1:c.1201+118C= | XP_006716995.1:n.1201+118C= | |
| XM_011518140.1:c.1405+118C= | XP_011516442.1:n.1405+118C= | |
| XM_011518141.1:c.1339+118C= | XP_011516443.1:n.1339+118C= | |
| XM_011518142.1:c.1243+118C= | XP_011516444.1:n.1243+118C= | |
| XM_011518143.1:c.1237+118C= | XP_011516445.1:n.1237+118C= | |
| XM_011518145.1:c.1096+118C= | XP_011516447.1:n.1096+118C= | |
| XM_011518147.1:c.424+118C= | XP_011516449.1:n.424+118C= | |
| XR_929703.1:n.1728+118C= | ||
| NM_001353193.1:c.1552+118C= | NP_001340122.1:n.1552+118C= | |
| NM_001353194.1:c.1324+118C= | NP_001340123.1:n.1324+118C= | |
| NM_001353195.1:c.1135+118C= | NP_001340124.1:n.1135+118C= | |
| NM_001353196.1:c.1396+118C= | NP_001340125.1:n.1396+118C= | |
| NM_001353197.1:c.1390+118C= | NP_001340126.1:n.1390+118C= | |
| NM_001353198.1:c.1390+118C= | NP_001340127.1:n.1390+118C= | |
| NM_001353199.1:c.1201+118C= | NP_001340128.1:n.1201+118C= | |
| NM_001353200.1:c.1030+118C= | NP_001340129.1:n.1030+118C= | |
| NR_148391.1:n.1536+118C= | ||
| NR_148392.1:n.1754+118C= | ||
| NR_148393.1:n.1675+118C= | ||
| NR_148394.1:n.1429+118C= | ||
| NR_148395.1:n.1827+118C= | ||
| NR_148396.1:n.1461+118C= | ||
| NR_148397.1:n.1586+118C= | ||
| NR_148398.1:n.1541+118C= | ||
| NR_148399.1:n.2067+118C= | ||
| NR_148400.1:n.1666+118C= | ||
| XM_005272162.3:c.355+118C= | XP_005272219.1:n.355+118C= | |
| XM_006716932.2:c.1201+118C= | XP_006716995.1:n.1201+118C= | |
| XM_011518140.2:c.1405+118C= | XP_011516442.1:n.1405+118C= | |
| XM_011518141.2:c.1339+118C= | XP_011516443.1:n.1339+118C= | |
| XM_011518142.2:c.1243+118C= | XP_011516444.1:n.1243+118C= | |
| XM_011518143.2:c.1237+118C= | XP_011516445.1:n.1237+118C= | |
| XM_011518145.2:c.1096+118C= | XP_011516447.1:n.1096+118C= | |
| XM_017014205.2:c.355+118C= | XP_016869694.1:n.355+118C= | |
| XM_024447380.1:c.355+118C= | XP_024303148.1:n.355+118C= | |
| XM_024447381.1:c.661+118C= | XP_024303149.1:n.661+118C= | |
| XM_024447382.1:c.355+118C= | XP_024303150.1:n.355+118C= | |
| XR_001746160.2:n.1656+118C= | ||
| XR_001746162.2:n.1861+118C= | ||
| XR_001746164.1:n.1578+118C= | ||
| XR_001746166.2:n.1873+118C= | ||
| NM_001077365.2:c.1486+118C= MANE Select | NP_001070833.1:n.1486+118C= | |
| NM_001077366.2:c.1324+118C= | NP_001070834.1:n.1324+118C= | |
| NM_001136113.2:c.1486+118C= | NP_001129585.1:n.1486+118C= | |
| NM_001136114.2:c.1135+118C= | NP_001129586.1:n.1135+118C= | |
| NM_001353193.2:c.1552+118C= | NP_001340122.2:n.1552+118C= | |
| NM_001353194.2:c.1324+118C= | NP_001340123.1:n.1324+118C= | |
| NM_001353195.2:c.1135+118C= | NP_001340124.1:n.1135+118C= | |
| NM_001353196.2:c.1396+118C= | NP_001340125.1:n.1396+118C= | |
| NM_001353197.2:c.1390+118C= | NP_001340126.2:n.1390+118C= | |
| NM_001353198.2:c.1390+118C= | NP_001340127.2:n.1390+118C= | |
| NM_001353199.2:c.1201+118C= | NP_001340128.2:n.1201+118C= | |
| NM_001353200.2:c.1030+118C= | NP_001340129.1:n.1030+118C= | |
| NM_001374689.1:c.1474+118C= | NP_001361618.1:n.1474+118C= | |
| NM_001374690.1:c.1365+538C= | NP_001361619.1:n.1365+538C= | |
| NM_001374691.1:c.1135+118C= | NP_001361620.1:n.1135+118C= | |
| NM_001374692.1:c.1135+118C= | NP_001361621.1:n.1135+118C= | |
| NM_001374693.1:c.1135+118C= | NP_001361622.1:n.1135+118C= | |
| NM_001374695.1:c.1096+118C= | NP_001361624.1:n.1096+118C= | |
| NM_007171.4:c.1552+118C= | NP_009102.4:n.1552+118C= | |
| NR_148391.2:n.1520+118C= | ||
| NR_148392.2:n.1738+118C= | ||
| NR_148393.2:n.1659+118C= | ||
| NR_148394.2:n.1413+118C= | ||
| NR_148395.2:n.1811+118C= | ||
| NR_148396.2:n.1445+118C= | ||
| NR_148397.2:n.1570+118C= | ||
| NR_148398.2:n.1525+118C= | ||
| NR_148399.2:n.2051+118C= | ||
| NR_148400.2:n.1650+118C= |