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.131515522G= , CM000671.2:g.131515522G= | GRCh38 |
| NC_000009.11:g.134390909G= , CM000671.1:g.134390909G= | GRCh37 |
| NC_000009.10:g.133380730G= | NCBI36 |
| NG_008896.1:g.17621G= | |
| NG_008896.2:g.17621G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110G= | ENSP00000343034.7:p.Leu370= | |
| ENST00000404875.7:n.1812G= | ||
| ENST00000423007.6:c.1329G= | ENSP00000404119.2:p.Leu443= | |
| ENST00000677295.2:c.*1616G= | ENSP00000504346.2:n.*1616G= | |
| ENST00000678264.2:c.*1455G= | ENSP00000503157.2:n.*1455G= | |
| ENST00000682070.1:n.1737G= | ||
| ENST00000682539.1:c.97G= | ||
| ENST00000682813.1:n.1537G= | ||
| ENST00000683392.1:n.4019G= | ||
| ENST00000683712.1:n.1677G= | ||
| ENST00000683900.1:n.3172G= | ||
| ENST00000684062.1:n.1938G= | ||
| ENST00000684579.1:n.3118G= | ||
| ENST00000341012.12:c.1110G= | ENSP00000343034.7:p.Leu370= | |
| ENST00000372220.5:c.141G= | ENSP00000361294.5:p.Leu47= | |
| ENST00000372228.9:c.1338G= | ENSP00000361302.3:p.Leu446= | |
| ENST00000402686.8:c.1272G= MANE Select | ENSP00000385797.4:p.Leu424= | |
| ENST00000676640.1:c.1272G= | ENSP00000503281.1:p.Leu424= | |
| ENST00000676803.1:c.447G= | ENSP00000503093.1:p.Leu149= | |
| ENST00000676835.1:c.*487G= | ENSP00000502911.1:n.*487G= | |
| ENST00000677029.1:c.816G= | ENSP00000502936.1:p.Leu272= | |
| ENST00000677099.1:c.*982G= | ENSP00000504553.1:n.*982G= | |
| ENST00000677216.1:c.921G= | ENSP00000503772.1:p.Leu307= | |
| ENST00000677295.1:c.*649G= | ENSP00000504346.1:n.*649G= | |
| ENST00000677444.1:c.1078G= | ||
| ENST00000677586.1:n.753G= | ||
| ENST00000677626.1:c.921G= | ENSP00000503552.1:p.Leu307= | |
| ENST00000677677.1:n.1232G= | ||
| ENST00000677853.1:c.*280G= | ENSP00000503488.1:n.*280G= | |
| ENST00000677944.1:c.534G= | ||
| ENST00000678264.1:c.*649G= | ENSP00000503157.1:n.*649G= | |
| ENST00000678303.1:c.1182G= | ENSP00000503696.1:p.Leu394= | |
| ENST00000678366.1:c.*1521G= | ENSP00000504353.1:n.*1521G= | |
| ENST00000678546.1:c.*1217G= | ENSP00000503062.1:n.*1217G= | |
| ENST00000678548.1:c.*1344G= | ENSP00000503934.1:n.*1344G= | |
| ENST00000678626.1:n.969G= | ||
| ENST00000678733.1:c.353G= | ||
| ENST00000678739.1:c.*1598G= | ENSP00000503806.1:n.*1598G= | |
| ENST00000678795.1:n.359G= | ||
| ENST00000678833.1:c.*719G= | ENSP00000503893.1:n.*719G= | |
| ENST00000678942.1:c.452G= | ENSP00000504690.1:n.452G= | |
| ENST00000679023.1:c.1110G= | ENSP00000503718.1:p.Leu370= | |
| ENST00000679076.1:c.891G= | ||
| ENST00000679111.1:c.1272G= | ENSP00000504257.1:p.Leu424= | |
| ENST00000679189.1:c.921G= | ENSP00000503356.1:p.Leu307= | |
| ENST00000341012.11:c.1110G= | ENSP00000343034.7:p.Leu370= | |
| ENST00000372228.7:c.1338G= | ENSP00000361302.3:p.Leu446= | |
| ENST00000402686.7:c.1272G= | ENSP00000385797.3:p.Leu424= | |
| ENST00000404875.6:c.921G= | ENSP00000384531.2:p.Leu307= | |
| ENST00000423007.5:c.1272G= | ENSP00000404119.1:p.Leu424= | |
| ENST00000485278.5:n.1827G= | ||
| NM_001077365.1:c.1272G= | NP_001070833.1:p.Leu424= | |
| NM_001077366.1:c.1110G= | NP_001070834.1:p.Leu370= | |
| NM_001136113.1:c.1272G= | NP_001129585.1:p.Leu424= | |
| NM_001136114.1:c.921G= | NP_001129586.1:p.Leu307= | |
| NM_007171.3:c.1338G= | NP_009102.3:p.Leu446= | |
| XM_005272156.1:c.1338G= | XP_005272213.1:p.Leu446= | |
| XM_005272158.1:c.1176G= | XP_005272215.1:p.Leu392= | |
| XM_005272159.1:c.987G= | XP_005272216.1:p.Leu329= | |
| XM_005272162.1:c.141G= | XP_005272219.1:p.Leu47= | |
| XM_006716932.1:c.987G= | XP_006716995.1:p.Leu329= | |
| XM_011518140.1:c.1191G= | XP_011516442.1:p.Leu397= | |
| XM_011518141.1:c.1125G= | XP_011516443.1:p.Leu375= | |
| XM_011518142.1:c.1029G= | XP_011516444.1:p.Leu343= | |
| XM_011518143.1:c.1023G= | XP_011516445.1:p.Leu341= | |
| XM_011518144.1:c.1338G= | XP_011516446.1:p.Leu446= | |
| XM_011518145.1:c.882G= | XP_011516447.1:p.Leu294= | |
| XM_011518146.1:c.1023G= | XP_011516448.1:p.Leu341= | |
| XR_929703.1:n.1514G= | ||
| NM_001353193.1:c.1338G= | NP_001340122.1:p.Leu446= | |
| NM_001353194.1:c.1110G= | NP_001340123.1:p.Leu370= | |
| NM_001353195.1:c.921G= | NP_001340124.1:p.Leu307= | |
| NM_001353196.1:c.1182G= | NP_001340125.1:p.Leu394= | |
| NM_001353197.1:c.1176G= | NP_001340126.1:p.Leu392= | |
| NM_001353198.1:c.1176G= | NP_001340127.1:p.Leu392= | |
| NM_001353199.1:c.987G= | NP_001340128.1:p.Leu329= | |
| NM_001353200.1:c.816G= | NP_001340129.1:p.Leu272= | |
| NR_148391.1:n.1322G= | ||
| NR_148392.1:n.1540G= | ||
| NR_148393.1:n.1322G= | ||
| NR_148394.1:n.1215G= | ||
| NR_148395.1:n.1474G= | ||
| NR_148396.1:n.1108G= | ||
| NR_148397.1:n.1372G= | ||
| NR_148398.1:n.1327G= | ||
| NR_148399.1:n.1714G= | ||
| NR_148400.1:n.1313G= | ||
| XM_005272162.3:c.141G= | XP_005272219.1:p.Leu47= | |
| XM_006716932.2:c.987G= | XP_006716995.1:p.Leu329= | |
| XM_011518140.2:c.1191G= | XP_011516442.1:p.Leu397= | |
| XM_011518141.2:c.1125G= | XP_011516443.1:p.Leu375= | |
| XM_011518142.2:c.1029G= | XP_011516444.1:p.Leu343= | |
| XM_011518143.2:c.1023G= | XP_011516445.1:p.Leu341= | |
| XM_011518145.2:c.882G= | XP_011516447.1:p.Leu294= | |
| XM_017014205.2:c.141G= | XP_016869694.1:p.Leu47= | |
| XM_024447380.1:c.141G= | XP_024303148.1:p.Leu47= | |
| XM_024447381.1:c.447G= | XP_024303149.1:p.Leu149= | |
| XM_024447382.1:c.141G= | XP_024303150.1:p.Leu47= | |
| XR_001746160.2:n.1442G= | ||
| XR_001746162.2:n.1508G= | ||
| XR_001746164.1:n.1225G= | ||
| XR_001746166.2:n.1659G= | ||
| NM_001077365.2:c.1272G= MANE Select | NP_001070833.1:p.Leu424= | |
| NM_001077366.2:c.1110G= | NP_001070834.1:p.Leu370= | |
| NM_001136113.2:c.1272G= | NP_001129585.1:p.Leu424= | |
| NM_001136114.2:c.921G= | NP_001129586.1:p.Leu307= | |
| NM_001353193.2:c.1338G= | NP_001340122.2:p.Leu446= | |
| NM_001353194.2:c.1110G= | NP_001340123.1:p.Leu370= | |
| NM_001353195.2:c.921G= | NP_001340124.1:p.Leu307= | |
| NM_001353196.2:c.1182G= | NP_001340125.1:p.Leu394= | |
| NM_001353197.2:c.1176G= | NP_001340126.2:p.Leu392= | |
| NM_001353198.2:c.1176G= | NP_001340127.2:p.Leu392= | |
| NM_001353199.2:c.987G= | NP_001340128.2:p.Leu329= | |
| NM_001353200.2:c.816G= | NP_001340129.1:p.Leu272= | |
| NM_001374689.1:c.1260G= | NP_001361618.1:p.Leu420= | |
| NM_001374690.1:c.1272G= | NP_001361619.1:p.Leu424= | |
| NM_001374691.1:c.921G= | NP_001361620.1:p.Leu307= | |
| NM_001374692.1:c.921G= | NP_001361621.1:p.Leu307= | |
| NM_001374693.1:c.921G= | NP_001361622.1:p.Leu307= | |
| NM_001374695.1:c.882G= | NP_001361624.1:p.Leu294= | |
| NM_007171.4:c.1338G= | NP_009102.4:p.Leu446= | |
| NR_148391.2:n.1306G= | ||
| NR_148392.2:n.1524G= | ||
| NR_148393.2:n.1306G= | ||
| NR_148394.2:n.1199G= | ||
| NR_148395.2:n.1458G= | ||
| NR_148396.2:n.1092G= | ||
| NR_148397.2:n.1356G= | ||
| NR_148398.2:n.1311G= | ||
| NR_148399.2:n.1698G= | ||
| NR_148400.2:n.1297G= |