SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518941G= , CM000671.2:g.131518941G= | GRCh38 |
| NC_000009.11:g.134394328G= , CM000671.1:g.134394328G= | GRCh37 |
| NC_000009.10:g.133384149G= | NCBI36 |
| NG_008896.1:g.21040G= | |
| NG_008896.2:g.21040G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1308G= | ENSP00000343034.7:p.Glu436= | |
| ENST00000404875.7:n.2010G= | ||
| ENST00000423007.6:c.1527G= | ENSP00000404119.2:p.Glu509= | |
| ENST00000677295.2:c.*1814G= | ENSP00000504346.2:n.*1814G= | |
| ENST00000678264.2:c.*1653G= | ENSP00000503157.2:n.*1653G= | |
| ENST00000682070.1:n.1935G= | ||
| ENST00000682539.1:c.408G= | ||
| ENST00000682813.1:n.1874G= | ||
| ENST00000683392.1:n.4217G= | ||
| ENST00000683712.1:n.1875G= | ||
| ENST00000683900.1:n.3370G= | ||
| ENST00000684062.1:n.2136G= | ||
| ENST00000684579.1:n.3316G= | ||
| ENST00000684679.1:n.697G= | ||
| ENST00000341012.12:c.1308G= | ENSP00000343034.7:p.Glu436= | |
| ENST00000372220.5:c.339G= | ENSP00000361294.5:p.Glu113= | |
| ENST00000372228.9:c.1536G= | ENSP00000361302.3:p.Glu512= | |
| ENST00000402686.8:c.1470G= MANE Select | ENSP00000385797.4:p.Glu490= | |
| ENST00000676640.1:c.1470G= | ENSP00000503281.1:p.Glu490= | |
| ENST00000676803.1:c.645G= | ENSP00000503093.1:p.Glu215= | |
| ENST00000676835.1:c.*685G= | ENSP00000502911.1:n.*685G= | |
| ENST00000677029.1:c.1014G= | ENSP00000502936.1:p.Glu338= | |
| ENST00000677099.1:c.*1180G= | ENSP00000504553.1:n.*1180G= | |
| ENST00000677216.1:c.1119G= | ENSP00000503772.1:p.Glu373= | |
| ENST00000677221.1:n.495G= | ||
| ENST00000677295.1:c.*847G= | ENSP00000504346.1:n.*847G= | |
| ENST00000677444.1:c.1415G= | ||
| ENST00000677586.1:n.951G= | ||
| ENST00000677626.1:c.1119G= | ENSP00000503552.1:p.Glu373= | |
| ENST00000677677.1:n.1430G= | ||
| ENST00000677853.1:c.*478G= | ENSP00000503488.1:n.*478G= | |
| ENST00000678202.1:n.629G= | ||
| ENST00000678264.1:c.*847G= | ENSP00000503157.1:n.*847G= | |
| ENST00000678303.1:c.1380G= | ENSP00000503696.1:p.Glu460= | |
| ENST00000678366.1:c.*1719G= | ENSP00000504353.1:n.*1719G= | |
| ENST00000678546.1:c.*1415G= | ENSP00000503062.1:n.*1415G= | |
| ENST00000678548.1:c.*1542G= | ENSP00000503934.1:n.*1542G= | |
| ENST00000678626.1:n.1306G= | ||
| ENST00000678733.1:c.551G= | ||
| ENST00000678739.1:c.*1796G= | ENSP00000503806.1:n.*1796G= | |
| ENST00000678833.1:c.*917G= | ENSP00000503893.1:n.*917G= | |
| ENST00000679023.1:c.1308G= | ENSP00000503718.1:p.Glu436= | |
| ENST00000679076.1:c.1089G= | ||
| ENST00000679111.1:c.*226G= | ENSP00000504257.1:n.*226G= | |
| ENST00000679189.1:c.1119G= | ENSP00000503356.1:p.Glu373= | |
| ENST00000341012.11:c.1308G= | ENSP00000343034.7:p.Glu436= | |
| ENST00000372220.4:c.333G= | ENSP00000361294.4:p.Glu111= | |
| ENST00000372228.7:c.1536G= | ENSP00000361302.3:p.Glu512= | |
| ENST00000402686.7:c.1470G= | ENSP00000385797.3:p.Glu490= | |
| ENST00000404875.6:c.1119G= | ENSP00000384531.2:p.Glu373= | |
| ENST00000423007.5:c.1470G= | ENSP00000404119.1:p.Glu490= | |
| ENST00000467848.1:n.174G= | ||
| ENST00000485278.5:n.2025G= | ||
| NM_001077365.1:c.1470G= | NP_001070833.1:p.Glu490= | |
| NM_001077366.1:c.1308G= | NP_001070834.1:p.Glu436= | |
| NM_001136113.1:c.1470G= | NP_001129585.1:p.Glu490= | |
| NM_001136114.1:c.1119G= | NP_001129586.1:p.Glu373= | |
| NM_007171.3:c.1536G= | NP_009102.3:p.Glu512= | |
| XM_005272156.1:c.1536G= | XP_005272213.1:p.Glu512= | |
| XM_005272158.1:c.1374G= | XP_005272215.1:p.Glu458= | |
| XM_005272159.1:c.1185G= | XP_005272216.1:p.Glu395= | |
| XM_005272162.1:c.339G= | XP_005272219.1:p.Glu113= | |
| XM_006716932.1:c.1185G= | XP_006716995.1:p.Glu395= | |
| XM_011518140.1:c.1389G= | XP_011516442.1:p.Glu463= | |
| XM_011518141.1:c.1323G= | XP_011516443.1:p.Glu441= | |
| XM_011518142.1:c.1227G= | XP_011516444.1:p.Glu409= | |
| XM_011518143.1:c.1221G= | XP_011516445.1:p.Glu407= | |
| XM_011518145.1:c.1080G= | XP_011516447.1:p.Glu360= | |
| XM_011518147.1:c.408G= | XP_011516449.1:p.Glu136= | |
| XR_929703.1:n.1712G= | ||
| NM_001353193.1:c.1536G= | NP_001340122.1:p.Glu512= | |
| NM_001353194.1:c.1308G= | NP_001340123.1:p.Glu436= | |
| NM_001353195.1:c.1119G= | NP_001340124.1:p.Glu373= | |
| NM_001353196.1:c.1380G= | NP_001340125.1:p.Glu460= | |
| NM_001353197.1:c.1374G= | NP_001340126.1:p.Glu458= | |
| NM_001353198.1:c.1374G= | NP_001340127.1:p.Glu458= | |
| NM_001353199.1:c.1185G= | NP_001340128.1:p.Glu395= | |
| NM_001353200.1:c.1014G= | NP_001340129.1:p.Glu338= | |
| NR_148391.1:n.1520G= | ||
| NR_148392.1:n.1738G= | ||
| NR_148393.1:n.1659G= | ||
| NR_148394.1:n.1413G= | ||
| NR_148395.1:n.1811G= | ||
| NR_148396.1:n.1445G= | ||
| NR_148397.1:n.1570G= | ||
| NR_148398.1:n.1525G= | ||
| NR_148399.1:n.2051G= | ||
| NR_148400.1:n.1650G= | ||
| XM_005272162.3:c.339G= | XP_005272219.1:p.Glu113= | |
| XM_006716932.2:c.1185G= | XP_006716995.1:p.Glu395= | |
| XM_011518140.2:c.1389G= | XP_011516442.1:p.Glu463= | |
| XM_011518141.2:c.1323G= | XP_011516443.1:p.Glu441= | |
| XM_011518142.2:c.1227G= | XP_011516444.1:p.Glu409= | |
| XM_011518143.2:c.1221G= | XP_011516445.1:p.Glu407= | |
| XM_011518145.2:c.1080G= | XP_011516447.1:p.Glu360= | |
| XM_017014205.2:c.339G= | XP_016869694.1:p.Glu113= | |
| XM_024447380.1:c.339G= | XP_024303148.1:p.Glu113= | |
| XM_024447381.1:c.645G= | XP_024303149.1:p.Glu215= | |
| XM_024447382.1:c.339G= | XP_024303150.1:p.Glu113= | |
| XR_001746160.2:n.1640G= | ||
| XR_001746162.2:n.1845G= | ||
| XR_001746164.1:n.1562G= | ||
| XR_001746166.2:n.1857G= | ||
| NM_001077365.2:c.1470G= MANE Select | NP_001070833.1:p.Glu490= | |
| NM_001077366.2:c.1308G= | NP_001070834.1:p.Glu436= | |
| NM_001136113.2:c.1470G= | NP_001129585.1:p.Glu490= | |
| NM_001136114.2:c.1119G= | NP_001129586.1:p.Glu373= | |
| NM_001353193.2:c.1536G= | NP_001340122.2:p.Glu512= | |
| NM_001353194.2:c.1308G= | NP_001340123.1:p.Glu436= | |
| NM_001353195.2:c.1119G= | NP_001340124.1:p.Glu373= | |
| NM_001353196.2:c.1380G= | NP_001340125.1:p.Glu460= | |
| NM_001353197.2:c.1374G= | NP_001340126.2:p.Glu458= | |
| NM_001353198.2:c.1374G= | NP_001340127.2:p.Glu458= | |
| NM_001353199.2:c.1185G= | NP_001340128.2:p.Glu395= | |
| NM_001353200.2:c.1014G= | NP_001340129.1:p.Glu338= | |
| NM_001374689.1:c.1458G= | NP_001361618.1:p.Glu486= | |
| NM_001374690.1:c.1365+404G= | NP_001361619.1:n.1365+404G= | |
| NM_001374691.1:c.1119G= | NP_001361620.1:p.Glu373= | |
| NM_001374692.1:c.1119G= | NP_001361621.1:p.Glu373= | |
| NM_001374693.1:c.1119G= | NP_001361622.1:p.Glu373= | |
| NM_001374695.1:c.1080G= | NP_001361624.1:p.Glu360= | |
| NM_007171.4:c.1536G= | NP_009102.4:p.Glu512= | |
| NR_148391.2:n.1504G= | ||
| NR_148392.2:n.1722G= | ||
| NR_148393.2:n.1643G= | ||
| NR_148394.2:n.1397G= | ||
| NR_148395.2:n.1795G= | ||
| NR_148396.2:n.1429G= | ||
| NR_148397.2:n.1554G= | ||
| NR_148398.2:n.1509G= | ||
| NR_148399.2:n.2035G= | ||
| NR_148400.2:n.1634G= |