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_000011.10:g.17395654G>T , CM000673.2:g.17395654G>T | GRCh38 |
| NC_000011.9:g.17417201G>T , CM000673.1:g.17417201G>T | GRCh37 |
| NC_000011.8:g.17373777G>T | NCBI36 |
| NG_008867.1:g.86249C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3864C>A | ||
| ENST00000528374.2:c.854C>A | ||
| ENST00000529967.6:n.2602C>A | ||
| ENST00000532220.2:n.3496C>A | ||
| ENST00000642611.2:n.5596C>A | ||
| ENST00000644057.2:n.839C>A | ||
| ENST00000645004.2:n.1762C>A | ||
| ENST00000682051.1:n.4425C>A | ||
| ENST00000682110.1:n.4478C>A | ||
| ENST00000682140.1:c.*49C>A | ENSP00000507829.1:n.*49C>A | |
| ENST00000682185.1:n.5568C>A | ||
| ENST00000682204.1:c.*2401C>A | ENSP00000507094.1:n.*2401C>A | |
| ENST00000682215.1:n.4845C>A | ||
| ENST00000682288.1:c.*2694C>A | ENSP00000507506.1:n.*2694C>A | |
| ENST00000682442.1:n.4698C>A | ||
| ENST00000682528.1:n.4555C>A | ||
| ENST00000682673.1:n.4422C>A | ||
| ENST00000682805.1:n.4883C>A | ||
| ENST00000682965.1:c.*685C>A | ENSP00000508229.1:n.*685C>A | |
| ENST00000683093.1:n.5562C>A | ||
| ENST00000683136.1:c.4146C>A | ENSP00000507768.1:p.Leu1382= | |
| ENST00000683153.1:n.4520C>A | ||
| ENST00000683365.1:n.4580C>A | ||
| ENST00000683377.1:n.4478C>A | ||
| ENST00000683456.1:c.*1400C>A | ENSP00000508318.1:n.*1400C>A | |
| ENST00000683522.1:n.4478C>A | ||
| ENST00000683562.1:c.*2432C>A | ENSP00000508265.1:n.*2432C>A | |
| ENST00000683693.1:n.6043C>A | ||
| ENST00000683725.1:c.4263C>A | ENSP00000507496.1:p.Leu1421= | |
| ENST00000684010.1:n.4473C>A | ||
| ENST00000684157.1:n.5463C>A | ||
| ENST00000684253.1:n.4381C>A | ||
| ENST00000684288.1:c.*2435C>A | ENSP00000507143.1:n.*2435C>A | |
| ENST00000684313.1:n.3910C>A | ||
| ENST00000684332.1:n.4551C>A | ||
| ENST00000684371.1:n.4584C>A | ||
| ENST00000684404.1:n.5506C>A | ||
| ENST00000684442.1:n.4702C>A | ||
| ENST00000684555.1:c.*2475C>A | ENSP00000507705.1:n.*2475C>A | |
| ENST00000684571.1:c.4104C>A | ENSP00000506935.1:p.Leu1368= | |
| ENST00000684593.1:c.*3968C>A | ENSP00000507005.1:n.*3968C>A | |
| ENST00000684711.1:c.*2659C>A | ENSP00000506841.1:n.*2659C>A | |
| ENST00000302539.9:c.4266C>A | ENSP00000303960.4:p.Leu1422= | |
| ENST00000389817.8:c.4263C>A MANE Select | ENSP00000374467.4:p.Leu1421= | |
| ENST00000642271.1:c.4260C>A | ENSP00000493749.1:p.Leu1420= | |
| ENST00000642579.1:c.2317C>A | ||
| ENST00000642611.1:n.5481C>A | ||
| ENST00000642902.1:c.4045C>A | ||
| ENST00000643260.1:c.4263C>A | ENSP00000494450.1:p.Leu1421= | |
| ENST00000643562.1:c.*2385C>A | ENSP00000496124.1:n.*2385C>A | |
| ENST00000643925.1:c.2903C>A | ||
| ENST00000644057.1:n.340C>A | ||
| ENST00000644484.1:c.*3649C>A | ENSP00000493558.1:n.*3649C>A | |
| ENST00000644675.1:c.*2435C>A | ENSP00000494567.1:n.*2435C>A | |
| ENST00000644757.1:c.*3202+610C>A | ENSP00000495085.1:n.*3202+610C>A | |
| ENST00000644772.1:c.4329C>A | ENSP00000494321.1:p.Leu1443= | |
| ENST00000645004.1:n.1956C>A | ||
| ENST00000645076.1:c.3462C>A | ||
| ENST00000645417.1:c.1451C>A | ||
| ENST00000645744.1:c.*3964-16C>A | ENSP00000494564.1:n.*3964-16C>A | |
| ENST00000645760.1:c.4684C>A | ||
| ENST00000645884.1:c.*1546C>A | ENSP00000495516.1:n.*1546C>A | |
| ENST00000646003.1:c.*2301-16C>A | ENSP00000495259.1:n.*2301-16C>A | |
| ENST00000646207.1:c.*3100C>A | ENSP00000495025.1:n.*3100C>A | |
| ENST00000646276.1:c.*3667C>A | ENSP00000496070.1:n.*3667C>A | |
| ENST00000646592.1:c.3569C>A | ||
| ENST00000646902.1:c.4230C>A | ENSP00000494101.1:p.Leu1410= | |
| ENST00000646993.1:c.*2805C>A | ENSP00000493720.1:n.*2805C>A | |
| ENST00000647013.1:c.4269C>A | ENSP00000496741.1:n.4269C>A | |
| ENST00000647015.1:c.4014C>A | ENSP00000495389.1:p.Leu1338= | |
| ENST00000647086.1:c.*3849C>A | ENSP00000493677.1:n.*3849C>A | |
| ENST00000647158.1:c.*2550C>A | ENSP00000495744.1:n.*2550C>A | |
| ENST00000302539.8:c.4266C>A | ENSP00000303960.4:p.Leu1422= | |
| ENST00000389817.7:c.4263C>A | ENSP00000374467.3:p.Leu1421= | |
| ENST00000525022.1:n.262C>A | ||
| ENST00000526037.5:n.127C>A | ||
| ENST00000526168.5:c.67-16C>A | ||
| ENST00000531642.5:c.99C>A | ||
| NM_000352.4:c.4263C>A | NP_000343.2:p.Leu1421= | |
| NM_001287174.1:c.4266C>A | NP_001274103.1:p.Leu1422= | |
| XM_011520331.1:c.4263C>A | XP_011518633.1:p.Leu1421= | |
| XM_011520332.1:c.4266C>A | XP_011518634.1:p.Leu1422= | |
| XM_011520333.1:c.2763C>A | XP_011518635.1:p.Leu921= | |
| XR_930890.1:n.4329C>A | ||
| NM_001351295.1:c.4329C>A | NP_001338224.1:p.Leu1443= | |
| NM_001351296.1:c.4263C>A | NP_001338225.1:p.Leu1421= | |
| NM_001351297.1:c.4260C>A | NP_001338226.1:p.Leu1420= | |
| NR_147094.1:n.4558C>A | ||
| XM_017018197.2:c.4332C>A | XP_016873686.1:p.Leu1444= | |
| XM_017018199.1:c.4329C>A | XP_016873688.1:p.Leu1443= | |
| XM_017018201.2:c.4332C>A | XP_016873690.1:p.Leu1444= | |
| XM_017018202.1:c.2829C>A | XP_016873691.1:p.Leu943= | |
| XM_017018204.1:c.2220C>A | XP_016873693.1:p.Leu740= | |
| XM_024448668.1:c.2631C>A | XP_024304436.1:p.Leu877= | |
| XR_001747945.2:n.4404C>A | ||
| XR_001747946.2:n.4335C>A | ||
| XR_002957189.1:n.6118C>A | ||
| NM_000352.6:c.4263C>A MANE Select | NP_000343.2:p.Leu1421= | |
| NM_001287174.2:c.4266C>A | NP_001274103.1:p.Leu1422= | |
| NM_001351295.2:c.4329C>A | NP_001338224.1:p.Leu1443= | |
| NM_001351296.2:c.4263C>A | NP_001338225.1:p.Leu1421= | |
| NM_001351297.2:c.4260C>A | NP_001338226.1:p.Leu1420= | |
| NR_147094.2:n.4558C>A | ||
| NM_001287174.3:c.4266C>A | NP_001274103.1:p.Leu1422= |