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.131522107A= , CM000671.2:g.131522107A= | GRCh38 |
| NC_000009.11:g.134397494A= , CM000671.1:g.134397494A= | GRCh37 |
| NC_000009.10:g.133387315A= | NCBI36 |
| NG_008896.1:g.24206A= | |
| NG_008896.2:g.24206A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1724A= | ENSP00000343034.7:p.Tyr575= | |
| ENST00000404875.7:n.2426A= | ||
| ENST00000423007.6:c.1943A= | ENSP00000404119.2:p.Tyr648= | |
| ENST00000677295.2:c.*2230A= | ENSP00000504346.2:n.*2230A= | |
| ENST00000678264.2:c.*2069A= | ENSP00000503157.2:n.*2069A= | |
| ENST00000682070.1:n.2291-95A= | ||
| ENST00000682813.1:n.2290A= | ||
| ENST00000683392.1:n.4573-95A= | ||
| ENST00000683712.1:n.2291A= | ||
| ENST00000683900.1:n.3786A= | ||
| ENST00000684062.1:n.2552A= | ||
| ENST00000684579.1:n.3732A= | ||
| ENST00000684679.1:n.1113A= | ||
| ENST00000341012.12:c.1724A= | ENSP00000343034.7:p.Tyr575= | |
| ENST00000372220.5:c.755A= | ENSP00000361294.5:p.Tyr252= | |
| ENST00000372228.9:c.1952A= | ENSP00000361302.3:p.Tyr651= | |
| ENST00000402686.8:c.1886A= MANE Select | ENSP00000385797.4:p.Tyr629= | |
| ENST00000676640.1:c.1886A= | ENSP00000503281.1:p.Tyr629= | |
| ENST00000676803.1:c.947A= | ENSP00000503093.1:p.Tyr316= | |
| ENST00000676835.1:c.*1101A= | ENSP00000502911.1:n.*1101A= | |
| ENST00000677029.1:c.1430A= | ENSP00000502936.1:p.Tyr477= | |
| ENST00000677099.1:c.*1596A= | ENSP00000504553.1:n.*1596A= | |
| ENST00000677216.1:c.1535A= | ENSP00000503772.1:p.Tyr512= | |
| ENST00000677221.1:n.911A= | ||
| ENST00000677295.1:c.*1203-95A= | ENSP00000504346.1:n.*1203-95A= | |
| ENST00000677444.1:c.1831A= | ||
| ENST00000677586.1:n.1253A= | ||
| ENST00000677626.1:c.1535A= | ENSP00000503552.1:p.Tyr512= | |
| ENST00000677853.1:c.*894A= | ENSP00000503488.1:n.*894A= | |
| ENST00000678202.1:n.1045A= | ||
| ENST00000678264.1:c.*1263A= | ENSP00000503157.1:n.*1263A= | |
| ENST00000678303.1:c.1796A= | ENSP00000503696.1:p.Tyr599= | |
| ENST00000678366.1:c.*2135A= | ENSP00000504353.1:n.*2135A= | |
| ENST00000678546.1:c.*1831A= | ENSP00000503062.1:n.*1831A= | |
| ENST00000678548.1:c.*2025A= | ENSP00000503934.1:n.*2025A= | |
| ENST00000678626.1:n.1722A= | ||
| ENST00000678739.1:c.*2147-95A= | ENSP00000503806.1:n.*2147-95A= | |
| ENST00000678833.1:c.*1638A= | ENSP00000503893.1:n.*1638A= | |
| ENST00000679023.1:c.1724A= | ENSP00000503718.1:p.Tyr575= | |
| ENST00000679076.1:c.1505A= | ||
| ENST00000679111.1:c.*642A= | ENSP00000504257.1:n.*642A= | |
| ENST00000679189.1:c.1535A= | ENSP00000503356.1:p.Tyr512= | |
| ENST00000341012.11:c.1724A= | ENSP00000343034.7:p.Tyr575= | |
| ENST00000372220.4:c.749A= | ENSP00000361294.4:p.Tyr250= | |
| ENST00000372228.7:c.1952A= | ENSP00000361302.3:p.Tyr651= | |
| ENST00000402686.7:c.1886A= | ENSP00000385797.3:p.Tyr629= | |
| ENST00000404875.6:c.1535A= | ENSP00000384531.2:p.Tyr512= | |
| ENST00000423007.5:c.1886A= | ENSP00000404119.1:p.Tyr629= | |
| ENST00000485278.5:n.2436A= | ||
| ENST00000494883.1:n.429A= | ||
| NM_001077365.1:c.1886A= | NP_001070833.1:p.Tyr629= | |
| NM_001077366.1:c.1724A= | NP_001070834.1:p.Tyr575= | |
| NM_001136113.1:c.1886A= | NP_001129585.1:p.Tyr629= | |
| NM_001136114.1:c.1535A= | NP_001129586.1:p.Tyr512= | |
| NM_007171.3:c.1952A= | NP_009102.3:p.Tyr651= | |
| XM_005272156.1:c.1952A= | XP_005272213.1:p.Tyr651= | |
| XM_005272158.1:c.1790A= | XP_005272215.1:p.Tyr597= | |
| XM_005272159.1:c.1601A= | XP_005272216.1:p.Tyr534= | |
| XM_005272162.1:c.755A= | XP_005272219.1:p.Tyr252= | |
| XM_006716932.1:c.1601A= | XP_006716995.1:p.Tyr534= | |
| XM_011518140.1:c.1805A= | XP_011516442.1:p.Tyr602= | |
| XM_011518141.1:c.1739A= | XP_011516443.1:p.Tyr580= | |
| XM_011518142.1:c.1643A= | XP_011516444.1:p.Tyr548= | |
| XM_011518143.1:c.1637A= | XP_011516445.1:p.Tyr546= | |
| XM_011518145.1:c.1496A= | XP_011516447.1:p.Tyr499= | |
| XM_011518147.1:c.824A= | XP_011516449.1:p.Tyr275= | |
| XR_929703.1:n.2128A= | ||
| NM_001353193.1:c.1952A= | NP_001340122.1:p.Tyr651= | |
| NM_001353194.1:c.1724A= | NP_001340123.1:p.Tyr575= | |
| NM_001353195.1:c.1535A= | NP_001340124.1:p.Tyr512= | |
| NM_001353196.1:c.1796A= | NP_001340125.1:p.Tyr599= | |
| NM_001353197.1:c.1790A= | NP_001340126.1:p.Tyr597= | |
| NM_001353198.1:c.1790A= | NP_001340127.1:p.Tyr597= | |
| NM_001353199.1:c.1601A= | NP_001340128.1:p.Tyr534= | |
| NM_001353200.1:c.1430A= | NP_001340129.1:p.Tyr477= | |
| NR_148391.1:n.1936A= | ||
| NR_148392.1:n.2154A= | ||
| NR_148393.1:n.2075A= | ||
| NR_148394.1:n.1829A= | ||
| NR_148395.1:n.2227A= | ||
| NR_148396.1:n.1861A= | ||
| NR_148397.1:n.1986A= | ||
| NR_148398.1:n.1941A= | ||
| NR_148399.1:n.2467A= | ||
| NR_148400.1:n.2066A= | ||
| XM_005272162.3:c.755A= | XP_005272219.1:p.Tyr252= | |
| XM_006716932.2:c.1601A= | XP_006716995.1:p.Tyr534= | |
| XM_011518140.2:c.1805A= | XP_011516442.1:p.Tyr602= | |
| XM_011518141.2:c.1739A= | XP_011516443.1:p.Tyr580= | |
| XM_011518142.2:c.1643A= | XP_011516444.1:p.Tyr548= | |
| XM_011518143.2:c.1637A= | XP_011516445.1:p.Tyr546= | |
| XM_011518145.2:c.1496A= | XP_011516447.1:p.Tyr499= | |
| XM_017014205.2:c.755A= | XP_016869694.1:p.Tyr252= | |
| XM_024447380.1:c.755A= | XP_024303148.1:p.Tyr252= | |
| XM_024447381.1:c.1061A= | XP_024303149.1:p.Tyr354= | |
| XM_024447382.1:c.755A= | XP_024303150.1:p.Tyr252= | |
| XR_001746160.2:n.2056A= | ||
| XR_001746162.2:n.2261A= | ||
| XR_001746164.1:n.1978A= | ||
| XR_001746166.2:n.2273A= | ||
| NM_001077365.2:c.1886A= MANE Select | NP_001070833.1:p.Tyr629= | |
| NM_001077366.2:c.1724A= | NP_001070834.1:p.Tyr575= | |
| NM_001136113.2:c.1886A= | NP_001129585.1:p.Tyr629= | |
| NM_001136114.2:c.1535A= | NP_001129586.1:p.Tyr512= | |
| NM_001353193.2:c.1952A= | NP_001340122.2:p.Tyr651= | |
| NM_001353194.2:c.1724A= | NP_001340123.1:p.Tyr575= | |
| NM_001353195.2:c.1535A= | NP_001340124.1:p.Tyr512= | |
| NM_001353196.2:c.1796A= | NP_001340125.1:p.Tyr599= | |
| NM_001353197.2:c.1790A= | NP_001340126.2:p.Tyr597= | |
| NM_001353198.2:c.1790A= | NP_001340127.2:p.Tyr597= | |
| NM_001353199.2:c.1601A= | NP_001340128.2:p.Tyr534= | |
| NM_001353200.2:c.1430A= | NP_001340129.1:p.Tyr477= | |
| NM_001374689.1:c.1874A= | NP_001361618.1:p.Tyr625= | |
| NM_001374690.1:c.1667A= | NP_001361619.1:p.Tyr556= | |
| NM_001374691.1:c.1535A= | NP_001361620.1:p.Tyr512= | |
| NM_001374692.1:c.1535A= | NP_001361621.1:p.Tyr512= | |
| NM_001374693.1:c.1535A= | NP_001361622.1:p.Tyr512= | |
| NM_001374695.1:c.1496A= | NP_001361624.1:p.Tyr499= | |
| NM_007171.4:c.1952A= | NP_009102.4:p.Tyr651= | |
| NR_148391.2:n.1920A= | ||
| NR_148392.2:n.2138A= | ||
| NR_148393.2:n.2059A= | ||
| NR_148394.2:n.1813A= | ||
| NR_148395.2:n.2211A= | ||
| NR_148396.2:n.1845A= | ||
| NR_148397.2:n.1970A= | ||
| NR_148398.2:n.1925A= | ||
| NR_148399.2:n.2451A= | ||
| NR_148400.2:n.2050A= |