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.131518483G= , CM000671.2:g.131518483G= | GRCh38 |
| NC_000009.11:g.134393870G= , CM000671.1:g.134393870G= | GRCh37 |
| NC_000009.10:g.133383691G= | NCBI36 |
| NG_008896.1:g.20582G= | |
| NG_008896.2:g.20582G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1149G= | ENSP00000343034.7:p.Lys383= | |
| ENST00000404875.7:n.1851G= | ||
| ENST00000423007.6:c.1368G= | ENSP00000404119.2:p.Lys456= | |
| ENST00000677295.2:c.*1655G= | ENSP00000504346.2:n.*1655G= | |
| ENST00000678264.2:c.*1494G= | ENSP00000503157.2:n.*1494G= | |
| ENST00000682070.1:n.1776G= | ||
| ENST00000682535.1:n.83G= | ||
| ENST00000682539.1:c.249G= | ||
| ENST00000682813.1:n.1576G= | ||
| ENST00000683110.1:n.39G= | ||
| ENST00000683392.1:n.4058G= | ||
| ENST00000683712.1:n.1716G= | ||
| ENST00000683900.1:n.3211G= | ||
| ENST00000684062.1:n.1977G= | ||
| ENST00000684579.1:n.3157G= | ||
| ENST00000684679.1:n.538G= | ||
| ENST00000341012.12:c.1149G= | ENSP00000343034.7:p.Lys383= | |
| ENST00000372220.5:c.180G= | ENSP00000361294.5:p.Lys60= | |
| ENST00000372228.9:c.1377G= | ENSP00000361302.3:p.Lys459= | |
| ENST00000402686.8:c.1311G= MANE Select | ENSP00000385797.4:p.Lys437= | |
| ENST00000676640.1:c.1311G= | ENSP00000503281.1:p.Lys437= | |
| ENST00000676803.1:c.486G= | ENSP00000503093.1:p.Lys162= | |
| ENST00000676835.1:c.*526G= | ENSP00000502911.1:n.*526G= | |
| ENST00000677029.1:c.855G= | ENSP00000502936.1:p.Lys285= | |
| ENST00000677099.1:c.*1021G= | ENSP00000504553.1:n.*1021G= | |
| ENST00000677216.1:c.960G= | ENSP00000503772.1:p.Lys320= | |
| ENST00000677221.1:n.336G= | ||
| ENST00000677295.1:c.*688G= | ENSP00000504346.1:n.*688G= | |
| ENST00000677444.1:c.1117G= | ||
| ENST00000677586.1:n.792G= | ||
| ENST00000677626.1:c.960G= | ENSP00000503552.1:p.Lys320= | |
| ENST00000677677.1:n.1271G= | ||
| ENST00000677853.1:c.*319G= | ENSP00000503488.1:n.*319G= | |
| ENST00000677983.1:n.400G= | ||
| ENST00000678202.1:n.331G= | ||
| ENST00000678264.1:c.*688G= | ENSP00000503157.1:n.*688G= | |
| ENST00000678303.1:c.1221G= | ENSP00000503696.1:p.Lys407= | |
| ENST00000678366.1:c.*1560G= | ENSP00000504353.1:n.*1560G= | |
| ENST00000678546.1:c.*1256G= | ENSP00000503062.1:n.*1256G= | |
| ENST00000678548.1:c.*1383G= | ENSP00000503934.1:n.*1383G= | |
| ENST00000678626.1:n.1008G= | ||
| ENST00000678733.1:c.392G= | ||
| ENST00000678739.1:c.*1637G= | ENSP00000503806.1:n.*1637G= | |
| ENST00000678795.1:n.398G= | ||
| ENST00000678833.1:c.*758G= | ENSP00000503893.1:n.*758G= | |
| ENST00000678942.1:c.491G= | ENSP00000504690.1:n.491G= | |
| ENST00000679023.1:c.1149G= | ENSP00000503718.1:p.Lys383= | |
| ENST00000679076.1:c.930G= | ||
| ENST00000679111.1:c.1311G= | ENSP00000504257.1:p.Lys437= | |
| ENST00000679189.1:c.960G= | ENSP00000503356.1:p.Lys320= | |
| ENST00000341012.11:c.1149G= | ENSP00000343034.7:p.Lys383= | |
| ENST00000372220.4:c.174G= | ENSP00000361294.4:p.Lys58= | |
| ENST00000372228.7:c.1377G= | ENSP00000361302.3:p.Lys459= | |
| ENST00000402686.7:c.1311G= | ENSP00000385797.3:p.Lys437= | |
| ENST00000404875.6:c.960G= | ENSP00000384531.2:p.Lys320= | |
| ENST00000423007.5:c.1311G= | ENSP00000404119.1:p.Lys437= | |
| ENST00000485278.5:n.1866G= | ||
| NM_001077365.1:c.1311G= | NP_001070833.1:p.Lys437= | |
| NM_001077366.1:c.1149G= | NP_001070834.1:p.Lys383= | |
| NM_001136113.1:c.1311G= | NP_001129585.1:p.Lys437= | |
| NM_001136114.1:c.960G= | NP_001129586.1:p.Lys320= | |
| NM_007171.3:c.1377G= | NP_009102.3:p.Lys459= | |
| XM_005272156.1:c.1377G= | XP_005272213.1:p.Lys459= | |
| XM_005272158.1:c.1215G= | XP_005272215.1:p.Lys405= | |
| XM_005272159.1:c.1026G= | XP_005272216.1:p.Lys342= | |
| XM_005272162.1:c.180G= | XP_005272219.1:p.Lys60= | |
| XM_006716932.1:c.1026G= | XP_006716995.1:p.Lys342= | |
| XM_011518140.1:c.1230G= | XP_011516442.1:p.Lys410= | |
| XM_011518141.1:c.1164G= | XP_011516443.1:p.Lys388= | |
| XM_011518142.1:c.1068G= | XP_011516444.1:p.Lys356= | |
| XM_011518143.1:c.1062G= | XP_011516445.1:p.Lys354= | |
| XM_011518144.1:c.1377G= | XP_011516446.1:p.Lys459= | |
| XM_011518145.1:c.921G= | XP_011516447.1:p.Lys307= | |
| XM_011518146.1:c.1062G= | XP_011516448.1:p.Lys354= | |
| XM_011518147.1:c.249G= | XP_011516449.1:p.Lys83= | |
| XR_929703.1:n.1553G= | ||
| NM_001353193.1:c.1377G= | NP_001340122.1:p.Lys459= | |
| NM_001353194.1:c.1149G= | NP_001340123.1:p.Lys383= | |
| NM_001353195.1:c.960G= | NP_001340124.1:p.Lys320= | |
| NM_001353196.1:c.1221G= | NP_001340125.1:p.Lys407= | |
| NM_001353197.1:c.1215G= | NP_001340126.1:p.Lys405= | |
| NM_001353198.1:c.1215G= | NP_001340127.1:p.Lys405= | |
| NM_001353199.1:c.1026G= | NP_001340128.1:p.Lys342= | |
| NM_001353200.1:c.855G= | NP_001340129.1:p.Lys285= | |
| NR_148391.1:n.1361G= | ||
| NR_148392.1:n.1579G= | ||
| NR_148393.1:n.1361G= | ||
| NR_148394.1:n.1254G= | ||
| NR_148395.1:n.1513G= | ||
| NR_148396.1:n.1147G= | ||
| NR_148397.1:n.1411G= | ||
| NR_148398.1:n.1366G= | ||
| NR_148399.1:n.1753G= | ||
| NR_148400.1:n.1352G= | ||
| XM_005272162.3:c.180G= | XP_005272219.1:p.Lys60= | |
| XM_006716932.2:c.1026G= | XP_006716995.1:p.Lys342= | |
| XM_011518140.2:c.1230G= | XP_011516442.1:p.Lys410= | |
| XM_011518141.2:c.1164G= | XP_011516443.1:p.Lys388= | |
| XM_011518142.2:c.1068G= | XP_011516444.1:p.Lys356= | |
| XM_011518143.2:c.1062G= | XP_011516445.1:p.Lys354= | |
| XM_011518145.2:c.921G= | XP_011516447.1:p.Lys307= | |
| XM_017014205.2:c.180G= | XP_016869694.1:p.Lys60= | |
| XM_024447380.1:c.180G= | XP_024303148.1:p.Lys60= | |
| XM_024447381.1:c.486G= | XP_024303149.1:p.Lys162= | |
| XM_024447382.1:c.180G= | XP_024303150.1:p.Lys60= | |
| XR_001746160.2:n.1481G= | ||
| XR_001746162.2:n.1547G= | ||
| XR_001746164.1:n.1264G= | ||
| XR_001746166.2:n.1698G= | ||
| NM_001077365.2:c.1311G= MANE Select | NP_001070833.1:p.Lys437= | |
| NM_001077366.2:c.1149G= | NP_001070834.1:p.Lys383= | |
| NM_001136113.2:c.1311G= | NP_001129585.1:p.Lys437= | |
| NM_001136114.2:c.960G= | NP_001129586.1:p.Lys320= | |
| NM_001353193.2:c.1377G= | NP_001340122.2:p.Lys459= | |
| NM_001353194.2:c.1149G= | NP_001340123.1:p.Lys383= | |
| NM_001353195.2:c.960G= | NP_001340124.1:p.Lys320= | |
| NM_001353196.2:c.1221G= | NP_001340125.1:p.Lys407= | |
| NM_001353197.2:c.1215G= | NP_001340126.2:p.Lys405= | |
| NM_001353198.2:c.1215G= | NP_001340127.2:p.Lys405= | |
| NM_001353199.2:c.1026G= | NP_001340128.2:p.Lys342= | |
| NM_001353200.2:c.855G= | NP_001340129.1:p.Lys285= | |
| NM_001374689.1:c.1299G= | NP_001361618.1:p.Lys433= | |
| NM_001374690.1:c.1311G= | NP_001361619.1:p.Lys437= | |
| NM_001374691.1:c.960G= | NP_001361620.1:p.Lys320= | |
| NM_001374692.1:c.960G= | NP_001361621.1:p.Lys320= | |
| NM_001374693.1:c.960G= | NP_001361622.1:p.Lys320= | |
| NM_001374695.1:c.921G= | NP_001361624.1:p.Lys307= | |
| NM_007171.4:c.1377G= | NP_009102.4:p.Lys459= | |
| NR_148391.2:n.1345G= | ||
| NR_148392.2:n.1563G= | ||
| NR_148393.2:n.1345G= | ||
| NR_148394.2:n.1238G= | ||
| NR_148395.2:n.1497G= | ||
| NR_148396.2:n.1131G= | ||
| NR_148397.2:n.1395G= | ||
| NR_148398.2:n.1350G= | ||
| NR_148399.2:n.1737G= | ||
| NR_148400.2:n.1336G= |