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.131522111C= , CM000671.2:g.131522111C= | GRCh38 |
| NC_000009.11:g.134397498C= , CM000671.1:g.134397498C= | GRCh37 |
| NC_000009.10:g.133387319C= | NCBI36 |
| NG_008896.1:g.24210C= | |
| NG_008896.2:g.24210C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1728C= | ENSP00000343034.7:p.Leu576= | |
| ENST00000404875.7:n.2430C= | ||
| ENST00000423007.6:c.1947C= | ENSP00000404119.2:p.Leu649= | |
| ENST00000677295.2:c.*2234C= | ENSP00000504346.2:n.*2234C= | |
| ENST00000678264.2:c.*2073C= | ENSP00000503157.2:n.*2073C= | |
| ENST00000682070.1:n.2291-91C= | ||
| ENST00000682813.1:n.2294C= | ||
| ENST00000683392.1:n.4573-91C= | ||
| ENST00000683712.1:n.2295C= | ||
| ENST00000683900.1:n.3790C= | ||
| ENST00000684062.1:n.2556C= | ||
| ENST00000684579.1:n.3736C= | ||
| ENST00000684679.1:n.1117C= | ||
| ENST00000341012.12:c.1728C= | ENSP00000343034.7:p.Leu576= | |
| ENST00000372220.5:c.759C= | ENSP00000361294.5:p.Leu253= | |
| ENST00000372228.9:c.1956C= | ENSP00000361302.3:p.Leu652= | |
| ENST00000402686.8:c.1890C= MANE Select | ENSP00000385797.4:p.Leu630= | |
| ENST00000676640.1:c.1890C= | ENSP00000503281.1:p.Leu630= | |
| ENST00000676803.1:c.951C= | ENSP00000503093.1:p.Leu317= | |
| ENST00000676835.1:c.*1105C= | ENSP00000502911.1:n.*1105C= | |
| ENST00000677029.1:c.1434C= | ENSP00000502936.1:p.Leu478= | |
| ENST00000677099.1:c.*1600C= | ENSP00000504553.1:n.*1600C= | |
| ENST00000677216.1:c.1539C= | ENSP00000503772.1:p.Leu513= | |
| ENST00000677221.1:n.915C= | ||
| ENST00000677295.1:c.*1203-91C= | ENSP00000504346.1:n.*1203-91C= | |
| ENST00000677444.1:c.1835C= | ||
| ENST00000677586.1:n.1257C= | ||
| ENST00000677626.1:c.1539C= | ENSP00000503552.1:p.Leu513= | |
| ENST00000677853.1:c.*898C= | ENSP00000503488.1:n.*898C= | |
| ENST00000678202.1:n.1049C= | ||
| ENST00000678264.1:c.*1267C= | ENSP00000503157.1:n.*1267C= | |
| ENST00000678303.1:c.1800C= | ENSP00000503696.1:p.Leu600= | |
| ENST00000678366.1:c.*2139C= | ENSP00000504353.1:n.*2139C= | |
| ENST00000678546.1:c.*1835C= | ENSP00000503062.1:n.*1835C= | |
| ENST00000678548.1:c.*2029C= | ENSP00000503934.1:n.*2029C= | |
| ENST00000678626.1:n.1726C= | ||
| ENST00000678739.1:c.*2147-91C= | ENSP00000503806.1:n.*2147-91C= | |
| ENST00000678833.1:c.*1642C= | ENSP00000503893.1:n.*1642C= | |
| ENST00000679023.1:c.1728C= | ENSP00000503718.1:p.Leu576= | |
| ENST00000679076.1:c.1509C= | ||
| ENST00000679111.1:c.*646C= | ENSP00000504257.1:n.*646C= | |
| ENST00000679189.1:c.1539C= | ENSP00000503356.1:p.Leu513= | |
| ENST00000341012.11:c.1728C= | ENSP00000343034.7:p.Leu576= | |
| ENST00000372220.4:c.753C= | ENSP00000361294.4:p.Leu251= | |
| ENST00000372228.7:c.1956C= | ENSP00000361302.3:p.Leu652= | |
| ENST00000402686.7:c.1890C= | ENSP00000385797.3:p.Leu630= | |
| ENST00000404875.6:c.1539C= | ENSP00000384531.2:p.Leu513= | |
| ENST00000423007.5:c.1890C= | ENSP00000404119.1:p.Leu630= | |
| ENST00000485278.5:n.2440C= | ||
| ENST00000494883.1:n.433C= | ||
| NM_001077365.1:c.1890C= | NP_001070833.1:p.Leu630= | |
| NM_001077366.1:c.1728C= | NP_001070834.1:p.Leu576= | |
| NM_001136113.1:c.1890C= | NP_001129585.1:p.Leu630= | |
| NM_001136114.1:c.1539C= | NP_001129586.1:p.Leu513= | |
| NM_007171.3:c.1956C= | NP_009102.3:p.Leu652= | |
| XM_005272156.1:c.1956C= | XP_005272213.1:p.Leu652= | |
| XM_005272158.1:c.1794C= | XP_005272215.1:p.Leu598= | |
| XM_005272159.1:c.1605C= | XP_005272216.1:p.Leu535= | |
| XM_005272162.1:c.759C= | XP_005272219.1:p.Leu253= | |
| XM_006716932.1:c.1605C= | XP_006716995.1:p.Leu535= | |
| XM_011518140.1:c.1809C= | XP_011516442.1:p.Leu603= | |
| XM_011518141.1:c.1743C= | XP_011516443.1:p.Leu581= | |
| XM_011518142.1:c.1647C= | XP_011516444.1:p.Leu549= | |
| XM_011518143.1:c.1641C= | XP_011516445.1:p.Leu547= | |
| XM_011518145.1:c.1500C= | XP_011516447.1:p.Leu500= | |
| XM_011518147.1:c.828C= | XP_011516449.1:p.Leu276= | |
| XR_929703.1:n.2132C= | ||
| NM_001353193.1:c.1956C= | NP_001340122.1:p.Leu652= | |
| NM_001353194.1:c.1728C= | NP_001340123.1:p.Leu576= | |
| NM_001353195.1:c.1539C= | NP_001340124.1:p.Leu513= | |
| NM_001353196.1:c.1800C= | NP_001340125.1:p.Leu600= | |
| NM_001353197.1:c.1794C= | NP_001340126.1:p.Leu598= | |
| NM_001353198.1:c.1794C= | NP_001340127.1:p.Leu598= | |
| NM_001353199.1:c.1605C= | NP_001340128.1:p.Leu535= | |
| NM_001353200.1:c.1434C= | NP_001340129.1:p.Leu478= | |
| NR_148391.1:n.1940C= | ||
| NR_148392.1:n.2158C= | ||
| NR_148393.1:n.2079C= | ||
| NR_148394.1:n.1833C= | ||
| NR_148395.1:n.2231C= | ||
| NR_148396.1:n.1865C= | ||
| NR_148397.1:n.1990C= | ||
| NR_148398.1:n.1945C= | ||
| NR_148399.1:n.2471C= | ||
| NR_148400.1:n.2070C= | ||
| XM_005272162.3:c.759C= | XP_005272219.1:p.Leu253= | |
| XM_006716932.2:c.1605C= | XP_006716995.1:p.Leu535= | |
| XM_011518140.2:c.1809C= | XP_011516442.1:p.Leu603= | |
| XM_011518141.2:c.1743C= | XP_011516443.1:p.Leu581= | |
| XM_011518142.2:c.1647C= | XP_011516444.1:p.Leu549= | |
| XM_011518143.2:c.1641C= | XP_011516445.1:p.Leu547= | |
| XM_011518145.2:c.1500C= | XP_011516447.1:p.Leu500= | |
| XM_017014205.2:c.759C= | XP_016869694.1:p.Leu253= | |
| XM_024447380.1:c.759C= | XP_024303148.1:p.Leu253= | |
| XM_024447381.1:c.1065C= | XP_024303149.1:p.Leu355= | |
| XM_024447382.1:c.759C= | XP_024303150.1:p.Leu253= | |
| XR_001746160.2:n.2060C= | ||
| XR_001746162.2:n.2265C= | ||
| XR_001746164.1:n.1982C= | ||
| XR_001746166.2:n.2277C= | ||
| NM_001077365.2:c.1890C= MANE Select | NP_001070833.1:p.Leu630= | |
| NM_001077366.2:c.1728C= | NP_001070834.1:p.Leu576= | |
| NM_001136113.2:c.1890C= | NP_001129585.1:p.Leu630= | |
| NM_001136114.2:c.1539C= | NP_001129586.1:p.Leu513= | |
| NM_001353193.2:c.1956C= | NP_001340122.2:p.Leu652= | |
| NM_001353194.2:c.1728C= | NP_001340123.1:p.Leu576= | |
| NM_001353195.2:c.1539C= | NP_001340124.1:p.Leu513= | |
| NM_001353196.2:c.1800C= | NP_001340125.1:p.Leu600= | |
| NM_001353197.2:c.1794C= | NP_001340126.2:p.Leu598= | |
| NM_001353198.2:c.1794C= | NP_001340127.2:p.Leu598= | |
| NM_001353199.2:c.1605C= | NP_001340128.2:p.Leu535= | |
| NM_001353200.2:c.1434C= | NP_001340129.1:p.Leu478= | |
| NM_001374689.1:c.1878C= | NP_001361618.1:p.Leu626= | |
| NM_001374690.1:c.1671C= | NP_001361619.1:p.Leu557= | |
| NM_001374691.1:c.1539C= | NP_001361620.1:p.Leu513= | |
| NM_001374692.1:c.1539C= | NP_001361621.1:p.Leu513= | |
| NM_001374693.1:c.1539C= | NP_001361622.1:p.Leu513= | |
| NM_001374695.1:c.1500C= | NP_001361624.1:p.Leu500= | |
| NM_007171.4:c.1956C= | NP_009102.4:p.Leu652= | |
| NR_148391.2:n.1924C= | ||
| NR_148392.2:n.2142C= | ||
| NR_148393.2:n.2063C= | ||
| NR_148394.2:n.1817C= | ||
| NR_148395.2:n.2215C= | ||
| NR_148396.2:n.1849C= | ||
| NR_148397.2:n.1974C= | ||
| NR_148398.2:n.1929C= | ||
| NR_148399.2:n.2455C= | ||
| NR_148400.2:n.2054C= |