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.131523095C= , CM000671.2:g.131523095C= | GRCh38 |
| NC_000009.11:g.134398482C= , CM000671.1:g.134398482C= | GRCh37 |
| NC_000009.10:g.133388303C= | NCBI36 |
| NG_008896.1:g.25194C= | |
| NG_008896.2:g.25194C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.2005C= | ENSP00000343034.7:p.Arg669= | |
| ENST00000404875.7:n.2707C= | ||
| ENST00000423007.6:c.2224C= | ENSP00000404119.2:p.Arg742= | |
| ENST00000677295.2:c.*2511C= | ENSP00000504346.2:n.*2511C= | |
| ENST00000678264.2:c.*2350C= | ENSP00000503157.2:n.*2350C= | |
| ENST00000682070.1:n.2477C= | ||
| ENST00000682639.1:c.164C= | ||
| ENST00000682813.1:n.2564C= | ||
| ENST00000683231.1:c.164C= | ||
| ENST00000683392.1:n.4759C= | ||
| ENST00000683712.1:n.2572C= | ||
| ENST00000683900.1:n.4067C= | ||
| ENST00000684062.1:n.2833C= | ||
| ENST00000684399.1:c.164C= | ||
| ENST00000684579.1:n.4013C= | ||
| ENST00000341012.12:c.2005C= | ENSP00000343034.7:p.Arg669= | |
| ENST00000372220.5:c.1036C= | ENSP00000361294.5:p.Arg346= | |
| ENST00000372228.9:c.2233C= | ENSP00000361302.3:p.Arg745= | |
| ENST00000402686.8:c.2167C= MANE Select | ENSP00000385797.4:p.Arg723= | |
| ENST00000676640.1:c.2167C= | ENSP00000503281.1:p.Arg723= | |
| ENST00000676803.1:c.1228C= | ENSP00000503093.1:p.Arg410= | |
| ENST00000676835.1:c.*1382C= | ENSP00000502911.1:n.*1382C= | |
| ENST00000677029.1:c.1711C= | ENSP00000502936.1:p.Arg571= | |
| ENST00000677099.1:c.*1877C= | ENSP00000504553.1:n.*1877C= | |
| ENST00000677216.1:c.1816C= | ENSP00000503772.1:p.Arg606= | |
| ENST00000677295.1:c.*1389C= | ENSP00000504346.1:n.*1389C= | |
| ENST00000677444.1:c.2112C= | ||
| ENST00000677586.1:n.1534C= | ||
| ENST00000677626.1:c.1816C= | ENSP00000503552.1:p.Arg606= | |
| ENST00000677853.1:c.*1175C= | ENSP00000503488.1:n.*1175C= | |
| ENST00000678264.1:c.*1544C= | ENSP00000503157.1:n.*1544C= | |
| ENST00000678303.1:c.2077C= | ENSP00000503696.1:p.Arg693= | |
| ENST00000678366.1:c.*2416C= | ENSP00000504353.1:n.*2416C= | |
| ENST00000678546.1:c.*2112C= | ENSP00000503062.1:n.*2112C= | |
| ENST00000678548.1:c.*2306C= | ENSP00000503934.1:n.*2306C= | |
| ENST00000678626.1:n.2003C= | ||
| ENST00000678739.1:c.*2333C= | ENSP00000503806.1:n.*2333C= | |
| ENST00000678833.1:c.*1919C= | ENSP00000503893.1:n.*1919C= | |
| ENST00000679023.1:c.2005C= | ENSP00000503718.1:p.Arg669= | |
| ENST00000679076.1:c.1786C= | ||
| ENST00000679111.1:c.*923C= | ENSP00000504257.1:n.*923C= | |
| ENST00000679189.1:c.1816C= | ENSP00000503356.1:p.Arg606= | |
| ENST00000341012.11:c.2005C= | ENSP00000343034.7:p.Arg669= | |
| ENST00000372220.4:c.1030C= | ENSP00000361294.4:p.Arg344= | |
| ENST00000372228.7:c.2233C= | ENSP00000361302.3:p.Arg745= | |
| ENST00000402686.7:c.2167C= | ENSP00000385797.3:p.Arg723= | |
| ENST00000404875.6:c.1816C= | ENSP00000384531.2:p.Arg606= | |
| ENST00000423007.5:c.2167C= | ENSP00000404119.1:p.Arg723= | |
| ENST00000485278.5:n.2717C= | ||
| NM_001077365.1:c.2167C= | NP_001070833.1:p.Arg723= | |
| NM_001077366.1:c.2005C= | NP_001070834.1:p.Arg669= | |
| NM_001136113.1:c.2167C= | NP_001129585.1:p.Arg723= | |
| NM_001136114.1:c.1816C= | NP_001129586.1:p.Arg606= | |
| NM_007171.3:c.2233C= | NP_009102.3:p.Arg745= | |
| XM_005272156.1:c.2233C= | XP_005272213.1:p.Arg745= | |
| XM_005272158.1:c.2071C= | XP_005272215.1:p.Arg691= | |
| XM_005272159.1:c.1882C= | XP_005272216.1:p.Arg628= | |
| XM_005272162.1:c.1036C= | XP_005272219.1:p.Arg346= | |
| XM_006716932.1:c.1882C= | XP_006716995.1:p.Arg628= | |
| XM_011518140.1:c.2086C= | XP_011516442.1:p.Arg696= | |
| XM_011518141.1:c.2020C= | XP_011516443.1:p.Arg674= | |
| XM_011518142.1:c.1924C= | XP_011516444.1:p.Arg642= | |
| XM_011518143.1:c.1918C= | XP_011516445.1:p.Arg640= | |
| XM_011518145.1:c.1777C= | XP_011516447.1:p.Arg593= | |
| XM_011518147.1:c.1105C= | XP_011516449.1:p.Arg369= | |
| XR_929703.1:n.2409C= | ||
| NM_001353193.1:c.2233C= | NP_001340122.1:p.Arg745= | |
| NM_001353194.1:c.2005C= | NP_001340123.1:p.Arg669= | |
| NM_001353195.1:c.1816C= | NP_001340124.1:p.Arg606= | |
| NM_001353196.1:c.2077C= | NP_001340125.1:p.Arg693= | |
| NM_001353197.1:c.2071C= | NP_001340126.1:p.Arg691= | |
| NM_001353198.1:c.2071C= | NP_001340127.1:p.Arg691= | |
| NM_001353199.1:c.1882C= | NP_001340128.1:p.Arg628= | |
| NM_001353200.1:c.1711C= | NP_001340129.1:p.Arg571= | |
| NR_148391.1:n.2217C= | ||
| NR_148392.1:n.2435C= | ||
| NR_148393.1:n.2356C= | ||
| NR_148394.1:n.2110C= | ||
| NR_148395.1:n.2508C= | ||
| NR_148396.1:n.2142C= | ||
| NR_148397.1:n.2267C= | ||
| NR_148398.1:n.2222C= | ||
| NR_148399.1:n.2748C= | ||
| NR_148400.1:n.2347C= | ||
| XM_005272162.3:c.1036C= | XP_005272219.1:p.Arg346= | |
| XM_006716932.2:c.1882C= | XP_006716995.1:p.Arg628= | |
| XM_011518140.2:c.2086C= | XP_011516442.1:p.Arg696= | |
| XM_011518141.2:c.2020C= | XP_011516443.1:p.Arg674= | |
| XM_011518142.2:c.1924C= | XP_011516444.1:p.Arg642= | |
| XM_011518143.2:c.1918C= | XP_011516445.1:p.Arg640= | |
| XM_011518145.2:c.1777C= | XP_011516447.1:p.Arg593= | |
| XM_017014205.2:c.1036C= | XP_016869694.1:p.Arg346= | |
| XM_024447380.1:c.1036C= | XP_024303148.1:p.Arg346= | |
| XM_024447381.1:c.1342C= | XP_024303149.1:p.Arg448= | |
| XM_024447382.1:c.1036C= | XP_024303150.1:p.Arg346= | |
| XR_001746160.2:n.2337C= | ||
| XR_001746162.2:n.2542C= | ||
| XR_001746164.1:n.2259C= | ||
| XR_001746166.2:n.2554C= | ||
| NM_001077365.2:c.2167C= MANE Select | NP_001070833.1:p.Arg723= | |
| NM_001077366.2:c.2005C= | NP_001070834.1:p.Arg669= | |
| NM_001136113.2:c.2167C= | NP_001129585.1:p.Arg723= | |
| NM_001136114.2:c.1816C= | NP_001129586.1:p.Arg606= | |
| NM_001353193.2:c.2233C= | NP_001340122.2:p.Arg745= | |
| NM_001353194.2:c.2005C= | NP_001340123.1:p.Arg669= | |
| NM_001353195.2:c.1816C= | NP_001340124.1:p.Arg606= | |
| NM_001353196.2:c.2077C= | NP_001340125.1:p.Arg693= | |
| NM_001353197.2:c.2071C= | NP_001340126.2:p.Arg691= | |
| NM_001353198.2:c.2071C= | NP_001340127.2:p.Arg691= | |
| NM_001353199.2:c.1882C= | NP_001340128.2:p.Arg628= | |
| NM_001353200.2:c.1711C= | NP_001340129.1:p.Arg571= | |
| NM_001374689.1:c.2155C= | NP_001361618.1:p.Arg719= | |
| NM_001374690.1:c.1948C= | NP_001361619.1:p.Arg650= | |
| NM_001374691.1:c.1816C= | NP_001361620.1:p.Arg606= | |
| NM_001374692.1:c.1816C= | NP_001361621.1:p.Arg606= | |
| NM_001374693.1:c.1816C= | NP_001361622.1:p.Arg606= | |
| NM_001374695.1:c.1777C= | NP_001361624.1:p.Arg593= | |
| NM_007171.4:c.2233C= | NP_009102.4:p.Arg745= | |
| NR_148391.2:n.2201C= | ||
| NR_148392.2:n.2419C= | ||
| NR_148393.2:n.2340C= | ||
| NR_148394.2:n.2094C= | ||
| NR_148395.2:n.2492C= | ||
| NR_148396.2:n.2126C= | ||
| NR_148397.2:n.2251C= | ||
| NR_148398.2:n.2206C= | ||
| NR_148399.2:n.2732C= | ||
| NR_148400.2:n.2331C= |