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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518840A>C , CM000671.2:g.131518840A>C | GRCh38 |
| NC_000009.11:g.134394227A>C , CM000671.1:g.134394227A>C | GRCh37 |
| NC_000009.10:g.133384048A>C | NCBI36 |
| NG_008896.1:g.20939A>C | |
| NG_008896.2:g.20939A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1207A>C | ENSP00000343034.7:p.Ser403Arg | |
| ENST00000404875.7:n.1909A>C | ||
| ENST00000423007.6:c.1426A>C | ENSP00000404119.2:p.Ser476Arg | |
| ENST00000677295.2:c.*1713A>C | ENSP00000504346.2:n.*1713A>C | |
| ENST00000678264.2:c.*1552A>C | ENSP00000503157.2:n.*1552A>C | |
| ENST00000682070.1:n.1834A>C | ||
| ENST00000682539.1:c.307A>C | ||
| ENST00000682813.1:n.1773A>C | ||
| ENST00000683392.1:n.4116A>C | ||
| ENST00000683712.1:n.1774A>C | ||
| ENST00000683900.1:n.3269A>C | ||
| ENST00000684062.1:n.2035A>C | ||
| ENST00000684579.1:n.3215A>C | ||
| ENST00000684679.1:n.596A>C | ||
| ENST00000341012.12:c.1207A>C | ENSP00000343034.7:p.Ser403Arg | |
| ENST00000372220.5:c.238A>C | ENSP00000361294.5:p.Ser80Arg | |
| ENST00000372228.9:c.1435A>C | ENSP00000361302.3:p.Ser479Arg | |
| ENST00000402686.8:c.1369A>C MANE Select | ENSP00000385797.4:p.Ser457Arg | |
| ENST00000676640.1:c.1369A>C | ENSP00000503281.1:p.Ser457Arg | |
| ENST00000676803.1:c.544A>C | ENSP00000503093.1:p.Ser182Arg | |
| ENST00000676835.1:c.*584A>C | ENSP00000502911.1:n.*584A>C | |
| ENST00000677029.1:c.913A>C | ENSP00000502936.1:p.Ser305Arg | |
| ENST00000677099.1:c.*1079A>C | ENSP00000504553.1:n.*1079A>C | |
| ENST00000677216.1:c.1018A>C | ENSP00000503772.1:p.Ser340Arg | |
| ENST00000677221.1:n.394A>C | ||
| ENST00000677295.1:c.*746A>C | ENSP00000504346.1:n.*746A>C | |
| ENST00000677444.1:c.1314A>C | ||
| ENST00000677586.1:n.850A>C | ||
| ENST00000677626.1:c.1018A>C | ENSP00000503552.1:p.Ser340Arg | |
| ENST00000677677.1:n.1329A>C | ||
| ENST00000677853.1:c.*377A>C | ENSP00000503488.1:n.*377A>C | |
| ENST00000678202.1:n.528A>C | ||
| ENST00000678264.1:c.*746A>C | ENSP00000503157.1:n.*746A>C | |
| ENST00000678303.1:c.1279A>C | ENSP00000503696.1:p.Ser427Arg | |
| ENST00000678366.1:c.*1618A>C | ENSP00000504353.1:n.*1618A>C | |
| ENST00000678546.1:c.*1314A>C | ENSP00000503062.1:n.*1314A>C | |
| ENST00000678548.1:c.*1441A>C | ENSP00000503934.1:n.*1441A>C | |
| ENST00000678626.1:n.1205A>C | ||
| ENST00000678733.1:c.450A>C | ||
| ENST00000678739.1:c.*1695A>C | ENSP00000503806.1:n.*1695A>C | |
| ENST00000678833.1:c.*816A>C | ENSP00000503893.1:n.*816A>C | |
| ENST00000679023.1:c.1207A>C | ENSP00000503718.1:p.Ser403Arg | |
| ENST00000679076.1:c.988A>C | ||
| ENST00000679111.1:c.*125A>C | ENSP00000504257.1:n.*125A>C | |
| ENST00000679189.1:c.1018A>C | ENSP00000503356.1:p.Ser340Arg | |
| ENST00000341012.11:c.1207A>C | ENSP00000343034.7:p.Ser403Arg | |
| ENST00000372220.4:c.232A>C | ENSP00000361294.4:p.Ser78Arg | |
| ENST00000372228.7:c.1435A>C | ENSP00000361302.3:p.Ser479Arg | |
| ENST00000402686.7:c.1369A>C | ENSP00000385797.3:p.Ser457Arg | |
| ENST00000404875.6:c.1018A>C | ENSP00000384531.2:p.Ser340Arg | |
| ENST00000423007.5:c.1369A>C | ENSP00000404119.1:p.Ser457Arg | |
| ENST00000467848.1:n.73A>C | ||
| ENST00000485278.5:n.1924A>C | ||
| NM_001077365.1:c.1369A>C | NP_001070833.1:p.Ser457Arg | |
| NM_001077366.1:c.1207A>C | NP_001070834.1:p.Ser403Arg | |
| NM_001136113.1:c.1369A>C | NP_001129585.1:p.Ser457Arg | |
| NM_001136114.1:c.1018A>C | NP_001129586.1:p.Ser340Arg | |
| NM_007171.3:c.1435A>C | NP_009102.3:p.Ser479Arg | |
| XM_005272156.1:c.1435A>C | XP_005272213.1:p.Ser479Arg | |
| XM_005272158.1:c.1273A>C | XP_005272215.1:p.Ser425Arg | |
| XM_005272159.1:c.1084A>C | XP_005272216.1:p.Ser362Arg | |
| XM_005272162.1:c.238A>C | XP_005272219.1:p.Ser80Arg | |
| XM_006716932.1:c.1084A>C | XP_006716995.1:p.Ser362Arg | |
| XM_011518140.1:c.1288A>C | XP_011516442.1:p.Ser430Arg | |
| XM_011518141.1:c.1222A>C | XP_011516443.1:p.Ser408Arg | |
| XM_011518142.1:c.1126A>C | XP_011516444.1:p.Ser376Arg | |
| XM_011518143.1:c.1120A>C | XP_011516445.1:p.Ser374Arg | |
| XM_011518144.1:c.*125A>C | XP_011516446.1:n.*125A>C | |
| XM_011518145.1:c.979A>C | XP_011516447.1:p.Ser327Arg | |
| XM_011518146.1:c.*125A>C | XP_011516448.1:n.*125A>C | |
| XM_011518147.1:c.307A>C | XP_011516449.1:p.Ser103Arg | |
| XR_929703.1:n.1611A>C | ||
| NM_001353193.1:c.1435A>C | NP_001340122.1:p.Ser479Arg | |
| NM_001353194.1:c.1207A>C | NP_001340123.1:p.Ser403Arg | |
| NM_001353195.1:c.1018A>C | NP_001340124.1:p.Ser340Arg | |
| NM_001353196.1:c.1279A>C | NP_001340125.1:p.Ser427Arg | |
| NM_001353197.1:c.1273A>C | NP_001340126.1:p.Ser425Arg | |
| NM_001353198.1:c.1273A>C | NP_001340127.1:p.Ser425Arg | |
| NM_001353199.1:c.1084A>C | NP_001340128.1:p.Ser362Arg | |
| NM_001353200.1:c.913A>C | NP_001340129.1:p.Ser305Arg | |
| NR_148391.1:n.1419A>C | ||
| NR_148392.1:n.1637A>C | ||
| NR_148393.1:n.1558A>C | ||
| NR_148394.1:n.1312A>C | ||
| NR_148395.1:n.1710A>C | ||
| NR_148396.1:n.1344A>C | ||
| NR_148397.1:n.1469A>C | ||
| NR_148398.1:n.1424A>C | ||
| NR_148399.1:n.1950A>C | ||
| NR_148400.1:n.1549A>C | ||
| XM_005272162.3:c.238A>C | XP_005272219.1:p.Ser80Arg | |
| XM_006716932.2:c.1084A>C | XP_006716995.1:p.Ser362Arg | |
| XM_011518140.2:c.1288A>C | XP_011516442.1:p.Ser430Arg | |
| XM_011518141.2:c.1222A>C | XP_011516443.1:p.Ser408Arg | |
| XM_011518142.2:c.1126A>C | XP_011516444.1:p.Ser376Arg | |
| XM_011518143.2:c.1120A>C | XP_011516445.1:p.Ser374Arg | |
| XM_011518145.2:c.979A>C | XP_011516447.1:p.Ser327Arg | |
| XM_017014205.2:c.238A>C | XP_016869694.1:p.Ser80Arg | |
| XM_024447380.1:c.238A>C | XP_024303148.1:p.Ser80Arg | |
| XM_024447381.1:c.544A>C | XP_024303149.1:p.Ser182Arg | |
| XM_024447382.1:c.238A>C | XP_024303150.1:p.Ser80Arg | |
| XR_001746160.2:n.1539A>C | ||
| XR_001746162.2:n.1744A>C | ||
| XR_001746164.1:n.1461A>C | ||
| XR_001746166.2:n.1756A>C | ||
| NM_001077365.2:c.1369A>C MANE Select | NP_001070833.1:p.Ser457Arg | |
| NM_001077366.2:c.1207A>C | NP_001070834.1:p.Ser403Arg | |
| NM_001136113.2:c.1369A>C | NP_001129585.1:p.Ser457Arg | |
| NM_001136114.2:c.1018A>C | NP_001129586.1:p.Ser340Arg | |
| NM_001353193.2:c.1435A>C | NP_001340122.2:p.Ser479Arg | |
| NM_001353194.2:c.1207A>C | NP_001340123.1:p.Ser403Arg | |
| NM_001353195.2:c.1018A>C | NP_001340124.1:p.Ser340Arg | |
| NM_001353196.2:c.1279A>C | NP_001340125.1:p.Ser427Arg | |
| NM_001353197.2:c.1273A>C | NP_001340126.2:p.Ser425Arg | |
| NM_001353198.2:c.1273A>C | NP_001340127.2:p.Ser425Arg | |
| NM_001353199.2:c.1084A>C | NP_001340128.2:p.Ser362Arg | |
| NM_001353200.2:c.913A>C | NP_001340129.1:p.Ser305Arg | |
| NM_001374689.1:c.1357A>C | NP_001361618.1:p.Ser453Arg | |
| NM_001374690.1:c.1365+303A>C | NP_001361619.1:n.1365+303A>C | |
| NM_001374691.1:c.1018A>C | NP_001361620.1:p.Ser340Arg | |
| NM_001374692.1:c.1018A>C | NP_001361621.1:p.Ser340Arg | |
| NM_001374693.1:c.1018A>C | NP_001361622.1:p.Ser340Arg | |
| NM_001374695.1:c.979A>C | NP_001361624.1:p.Ser327Arg | |
| NM_007171.4:c.1435A>C | NP_009102.4:p.Ser479Arg | |
| NR_148391.2:n.1403A>C | ||
| NR_148392.2:n.1621A>C | ||
| NR_148393.2:n.1542A>C | ||
| NR_148394.2:n.1296A>C | ||
| NR_148395.2:n.1694A>C | ||
| NR_148396.2:n.1328A>C | ||
| NR_148397.2:n.1453A>C | ||
| NR_148398.2:n.1408A>C | ||
| NR_148399.2:n.1934A>C | ||
| NR_148400.2:n.1533A>C |