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.131515504C= , CM000671.2:g.131515504C= | GRCh38 |
| NC_000009.11:g.134390891C= , CM000671.1:g.134390891C= | GRCh37 |
| NC_000009.10:g.133380712C= | NCBI36 |
| NG_008896.1:g.17603C= | |
| NG_008896.2:g.17603C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1092C= | ENSP00000343034.7:p.Ala364= | |
| ENST00000404875.7:n.1794C= | ||
| ENST00000423007.6:c.1311C= | ENSP00000404119.2:p.Ala437= | |
| ENST00000677295.2:c.*1598C= | ENSP00000504346.2:n.*1598C= | |
| ENST00000678264.2:c.*1437C= | ENSP00000503157.2:n.*1437C= | |
| ENST00000682070.1:n.1719C= | ||
| ENST00000682539.1:c.79C= | ||
| ENST00000682813.1:n.1519C= | ||
| ENST00000683392.1:n.4001C= | ||
| ENST00000683712.1:n.1659C= | ||
| ENST00000683900.1:n.3154C= | ||
| ENST00000684062.1:n.1920C= | ||
| ENST00000684579.1:n.3100C= | ||
| ENST00000341012.12:c.1092C= | ENSP00000343034.7:p.Ala364= | |
| ENST00000372220.5:c.123C= | ENSP00000361294.5:p.Ala41= | |
| ENST00000372228.9:c.1320C= | ENSP00000361302.3:p.Ala440= | |
| ENST00000402686.8:c.1254C= MANE Select | ENSP00000385797.4:p.Ala418= | |
| ENST00000676640.1:c.1254C= | ENSP00000503281.1:p.Ala418= | |
| ENST00000676803.1:c.429C= | ENSP00000503093.1:p.Ala143= | |
| ENST00000676835.1:c.*469C= | ENSP00000502911.1:n.*469C= | |
| ENST00000677029.1:c.798C= | ENSP00000502936.1:p.Ala266= | |
| ENST00000677099.1:c.*964C= | ENSP00000504553.1:n.*964C= | |
| ENST00000677216.1:c.903C= | ENSP00000503772.1:p.Ala301= | |
| ENST00000677295.1:c.*631C= | ENSP00000504346.1:n.*631C= | |
| ENST00000677444.1:c.1060C= | ||
| ENST00000677586.1:n.735C= | ||
| ENST00000677626.1:c.903C= | ENSP00000503552.1:p.Ala301= | |
| ENST00000677677.1:n.1214C= | ||
| ENST00000677853.1:c.*262C= | ENSP00000503488.1:n.*262C= | |
| ENST00000677944.1:c.516C= | ||
| ENST00000678264.1:c.*631C= | ENSP00000503157.1:n.*631C= | |
| ENST00000678303.1:c.1164C= | ENSP00000503696.1:p.Ala388= | |
| ENST00000678366.1:c.*1503C= | ENSP00000504353.1:n.*1503C= | |
| ENST00000678546.1:c.*1199C= | ENSP00000503062.1:n.*1199C= | |
| ENST00000678548.1:c.*1326C= | ENSP00000503934.1:n.*1326C= | |
| ENST00000678626.1:n.951C= | ||
| ENST00000678733.1:c.335C= | ||
| ENST00000678739.1:c.*1580C= | ENSP00000503806.1:n.*1580C= | |
| ENST00000678795.1:n.341C= | ||
| ENST00000678833.1:c.*701C= | ENSP00000503893.1:n.*701C= | |
| ENST00000678942.1:c.434C= | ENSP00000504690.1:n.434C= | |
| ENST00000679023.1:c.1092C= | ENSP00000503718.1:p.Ala364= | |
| ENST00000679076.1:c.873C= | ||
| ENST00000679111.1:c.1254C= | ENSP00000504257.1:p.Ala418= | |
| ENST00000679189.1:c.903C= | ENSP00000503356.1:p.Ala301= | |
| ENST00000341012.11:c.1092C= | ENSP00000343034.7:p.Ala364= | |
| ENST00000372228.7:c.1320C= | ENSP00000361302.3:p.Ala440= | |
| ENST00000402686.7:c.1254C= | ENSP00000385797.3:p.Ala418= | |
| ENST00000404875.6:c.903C= | ENSP00000384531.2:p.Ala301= | |
| ENST00000423007.5:c.1254C= | ENSP00000404119.1:p.Ala418= | |
| ENST00000485278.5:n.1809C= | ||
| NM_001077365.1:c.1254C= | NP_001070833.1:p.Ala418= | |
| NM_001077366.1:c.1092C= | NP_001070834.1:p.Ala364= | |
| NM_001136113.1:c.1254C= | NP_001129585.1:p.Ala418= | |
| NM_001136114.1:c.903C= | NP_001129586.1:p.Ala301= | |
| NM_007171.3:c.1320C= | NP_009102.3:p.Ala440= | |
| XM_005272156.1:c.1320C= | XP_005272213.1:p.Ala440= | |
| XM_005272158.1:c.1158C= | XP_005272215.1:p.Ala386= | |
| XM_005272159.1:c.969C= | XP_005272216.1:p.Ala323= | |
| XM_005272162.1:c.123C= | XP_005272219.1:p.Ala41= | |
| XM_006716932.1:c.969C= | XP_006716995.1:p.Ala323= | |
| XM_011518140.1:c.1173C= | XP_011516442.1:p.Ala391= | |
| XM_011518141.1:c.1107C= | XP_011516443.1:p.Ala369= | |
| XM_011518142.1:c.1011C= | XP_011516444.1:p.Ala337= | |
| XM_011518143.1:c.1005C= | XP_011516445.1:p.Ala335= | |
| XM_011518144.1:c.1320C= | XP_011516446.1:p.Ala440= | |
| XM_011518145.1:c.864C= | XP_011516447.1:p.Ala288= | |
| XM_011518146.1:c.1005C= | XP_011516448.1:p.Ala335= | |
| XR_929703.1:n.1496C= | ||
| NM_001353193.1:c.1320C= | NP_001340122.1:p.Ala440= | |
| NM_001353194.1:c.1092C= | NP_001340123.1:p.Ala364= | |
| NM_001353195.1:c.903C= | NP_001340124.1:p.Ala301= | |
| NM_001353196.1:c.1164C= | NP_001340125.1:p.Ala388= | |
| NM_001353197.1:c.1158C= | NP_001340126.1:p.Ala386= | |
| NM_001353198.1:c.1158C= | NP_001340127.1:p.Ala386= | |
| NM_001353199.1:c.969C= | NP_001340128.1:p.Ala323= | |
| NM_001353200.1:c.798C= | NP_001340129.1:p.Ala266= | |
| NR_148391.1:n.1304C= | ||
| NR_148392.1:n.1522C= | ||
| NR_148393.1:n.1304C= | ||
| NR_148394.1:n.1197C= | ||
| NR_148395.1:n.1456C= | ||
| NR_148396.1:n.1090C= | ||
| NR_148397.1:n.1354C= | ||
| NR_148398.1:n.1309C= | ||
| NR_148399.1:n.1696C= | ||
| NR_148400.1:n.1295C= | ||
| XM_005272162.3:c.123C= | XP_005272219.1:p.Ala41= | |
| XM_006716932.2:c.969C= | XP_006716995.1:p.Ala323= | |
| XM_011518140.2:c.1173C= | XP_011516442.1:p.Ala391= | |
| XM_011518141.2:c.1107C= | XP_011516443.1:p.Ala369= | |
| XM_011518142.2:c.1011C= | XP_011516444.1:p.Ala337= | |
| XM_011518143.2:c.1005C= | XP_011516445.1:p.Ala335= | |
| XM_011518145.2:c.864C= | XP_011516447.1:p.Ala288= | |
| XM_017014205.2:c.123C= | XP_016869694.1:p.Ala41= | |
| XM_024447380.1:c.123C= | XP_024303148.1:p.Ala41= | |
| XM_024447381.1:c.429C= | XP_024303149.1:p.Ala143= | |
| XM_024447382.1:c.123C= | XP_024303150.1:p.Ala41= | |
| XR_001746160.2:n.1424C= | ||
| XR_001746162.2:n.1490C= | ||
| XR_001746164.1:n.1207C= | ||
| XR_001746166.2:n.1641C= | ||
| NM_001077365.2:c.1254C= MANE Select | NP_001070833.1:p.Ala418= | |
| NM_001077366.2:c.1092C= | NP_001070834.1:p.Ala364= | |
| NM_001136113.2:c.1254C= | NP_001129585.1:p.Ala418= | |
| NM_001136114.2:c.903C= | NP_001129586.1:p.Ala301= | |
| NM_001353193.2:c.1320C= | NP_001340122.2:p.Ala440= | |
| NM_001353194.2:c.1092C= | NP_001340123.1:p.Ala364= | |
| NM_001353195.2:c.903C= | NP_001340124.1:p.Ala301= | |
| NM_001353196.2:c.1164C= | NP_001340125.1:p.Ala388= | |
| NM_001353197.2:c.1158C= | NP_001340126.2:p.Ala386= | |
| NM_001353198.2:c.1158C= | NP_001340127.2:p.Ala386= | |
| NM_001353199.2:c.969C= | NP_001340128.2:p.Ala323= | |
| NM_001353200.2:c.798C= | NP_001340129.1:p.Ala266= | |
| NM_001374689.1:c.1242C= | NP_001361618.1:p.Ala414= | |
| NM_001374690.1:c.1254C= | NP_001361619.1:p.Ala418= | |
| NM_001374691.1:c.903C= | NP_001361620.1:p.Ala301= | |
| NM_001374692.1:c.903C= | NP_001361621.1:p.Ala301= | |
| NM_001374693.1:c.903C= | NP_001361622.1:p.Ala301= | |
| NM_001374695.1:c.864C= | NP_001361624.1:p.Ala288= | |
| NM_007171.4:c.1320C= | NP_009102.4:p.Ala440= | |
| NR_148391.2:n.1288C= | ||
| NR_148392.2:n.1506C= | ||
| NR_148393.2:n.1288C= | ||
| NR_148394.2:n.1181C= | ||
| NR_148395.2:n.1440C= | ||
| NR_148396.2:n.1074C= | ||
| NR_148397.2:n.1338C= | ||
| NR_148398.2:n.1293C= | ||
| NR_148399.2:n.1680C= | ||
| NR_148400.2:n.1279C= |