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.131522126G= , CM000671.2:g.131522126G= | GRCh38 |
| NC_000009.11:g.134397513G= , CM000671.1:g.134397513G= | GRCh37 |
| NC_000009.10:g.133387334G= | NCBI36 |
| NG_008896.1:g.24225G= | |
| NG_008896.2:g.24225G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1743G= | ENSP00000343034.7:p.Met581= | |
| ENST00000404875.7:n.2445G= | ||
| ENST00000423007.6:c.1962G= | ENSP00000404119.2:p.Met654= | |
| ENST00000677295.2:c.*2249G= | ENSP00000504346.2:n.*2249G= | |
| ENST00000678264.2:c.*2088G= | ENSP00000503157.2:n.*2088G= | |
| ENST00000682070.1:n.2291-76G= | ||
| ENST00000682813.1:n.2309G= | ||
| ENST00000683392.1:n.4573-76G= | ||
| ENST00000683712.1:n.2310G= | ||
| ENST00000683900.1:n.3805G= | ||
| ENST00000684062.1:n.2571G= | ||
| ENST00000684579.1:n.3751G= | ||
| ENST00000684679.1:n.1132G= | ||
| ENST00000341012.12:c.1743G= | ENSP00000343034.7:p.Met581= | |
| ENST00000372220.5:c.774G= | ENSP00000361294.5:p.Met258= | |
| ENST00000372228.9:c.1971G= | ENSP00000361302.3:p.Met657= | |
| ENST00000402686.8:c.1905G= MANE Select | ENSP00000385797.4:p.Met635= | |
| ENST00000676640.1:c.1905G= | ENSP00000503281.1:p.Met635= | |
| ENST00000676803.1:c.966G= | ENSP00000503093.1:p.Met322= | |
| ENST00000676835.1:c.*1120G= | ENSP00000502911.1:n.*1120G= | |
| ENST00000677029.1:c.1449G= | ENSP00000502936.1:p.Met483= | |
| ENST00000677099.1:c.*1615G= | ENSP00000504553.1:n.*1615G= | |
| ENST00000677216.1:c.1554G= | ENSP00000503772.1:p.Met518= | |
| ENST00000677221.1:n.930G= | ||
| ENST00000677295.1:c.*1203-76G= | ENSP00000504346.1:n.*1203-76G= | |
| ENST00000677444.1:c.1850G= | ||
| ENST00000677586.1:n.1272G= | ||
| ENST00000677626.1:c.1554G= | ENSP00000503552.1:p.Met518= | |
| ENST00000677853.1:c.*913G= | ENSP00000503488.1:n.*913G= | |
| ENST00000678202.1:n.1064G= | ||
| ENST00000678264.1:c.*1282G= | ENSP00000503157.1:n.*1282G= | |
| ENST00000678303.1:c.1815G= | ENSP00000503696.1:p.Met605= | |
| ENST00000678366.1:c.*2154G= | ENSP00000504353.1:n.*2154G= | |
| ENST00000678546.1:c.*1850G= | ENSP00000503062.1:n.*1850G= | |
| ENST00000678548.1:c.*2044G= | ENSP00000503934.1:n.*2044G= | |
| ENST00000678626.1:n.1741G= | ||
| ENST00000678739.1:c.*2147-76G= | ENSP00000503806.1:n.*2147-76G= | |
| ENST00000678833.1:c.*1657G= | ENSP00000503893.1:n.*1657G= | |
| ENST00000679023.1:c.1743G= | ENSP00000503718.1:p.Met581= | |
| ENST00000679076.1:c.1524G= | ||
| ENST00000679111.1:c.*661G= | ENSP00000504257.1:n.*661G= | |
| ENST00000679189.1:c.1554G= | ENSP00000503356.1:p.Met518= | |
| ENST00000341012.11:c.1743G= | ENSP00000343034.7:p.Met581= | |
| ENST00000372220.4:c.768G= | ENSP00000361294.4:p.Met256= | |
| ENST00000372228.7:c.1971G= | ENSP00000361302.3:p.Met657= | |
| ENST00000402686.7:c.1905G= | ENSP00000385797.3:p.Met635= | |
| ENST00000404875.6:c.1554G= | ENSP00000384531.2:p.Met518= | |
| ENST00000423007.5:c.1905G= | ENSP00000404119.1:p.Met635= | |
| ENST00000485278.5:n.2455G= | ||
| ENST00000494883.1:n.448G= | ||
| NM_001077365.1:c.1905G= | NP_001070833.1:p.Met635= | |
| NM_001077366.1:c.1743G= | NP_001070834.1:p.Met581= | |
| NM_001136113.1:c.1905G= | NP_001129585.1:p.Met635= | |
| NM_001136114.1:c.1554G= | NP_001129586.1:p.Met518= | |
| NM_007171.3:c.1971G= | NP_009102.3:p.Met657= | |
| XM_005272156.1:c.1971G= | XP_005272213.1:p.Met657= | |
| XM_005272158.1:c.1809G= | XP_005272215.1:p.Met603= | |
| XM_005272159.1:c.1620G= | XP_005272216.1:p.Met540= | |
| XM_005272162.1:c.774G= | XP_005272219.1:p.Met258= | |
| XM_006716932.1:c.1620G= | XP_006716995.1:p.Met540= | |
| XM_011518140.1:c.1824G= | XP_011516442.1:p.Met608= | |
| XM_011518141.1:c.1758G= | XP_011516443.1:p.Met586= | |
| XM_011518142.1:c.1662G= | XP_011516444.1:p.Met554= | |
| XM_011518143.1:c.1656G= | XP_011516445.1:p.Met552= | |
| XM_011518145.1:c.1515G= | XP_011516447.1:p.Met505= | |
| XM_011518147.1:c.843G= | XP_011516449.1:p.Met281= | |
| XR_929703.1:n.2147G= | ||
| NM_001353193.1:c.1971G= | NP_001340122.1:p.Met657= | |
| NM_001353194.1:c.1743G= | NP_001340123.1:p.Met581= | |
| NM_001353195.1:c.1554G= | NP_001340124.1:p.Met518= | |
| NM_001353196.1:c.1815G= | NP_001340125.1:p.Met605= | |
| NM_001353197.1:c.1809G= | NP_001340126.1:p.Met603= | |
| NM_001353198.1:c.1809G= | NP_001340127.1:p.Met603= | |
| NM_001353199.1:c.1620G= | NP_001340128.1:p.Met540= | |
| NM_001353200.1:c.1449G= | NP_001340129.1:p.Met483= | |
| NR_148391.1:n.1955G= | ||
| NR_148392.1:n.2173G= | ||
| NR_148393.1:n.2094G= | ||
| NR_148394.1:n.1848G= | ||
| NR_148395.1:n.2246G= | ||
| NR_148396.1:n.1880G= | ||
| NR_148397.1:n.2005G= | ||
| NR_148398.1:n.1960G= | ||
| NR_148399.1:n.2486G= | ||
| NR_148400.1:n.2085G= | ||
| XM_005272162.3:c.774G= | XP_005272219.1:p.Met258= | |
| XM_006716932.2:c.1620G= | XP_006716995.1:p.Met540= | |
| XM_011518140.2:c.1824G= | XP_011516442.1:p.Met608= | |
| XM_011518141.2:c.1758G= | XP_011516443.1:p.Met586= | |
| XM_011518142.2:c.1662G= | XP_011516444.1:p.Met554= | |
| XM_011518143.2:c.1656G= | XP_011516445.1:p.Met552= | |
| XM_011518145.2:c.1515G= | XP_011516447.1:p.Met505= | |
| XM_017014205.2:c.774G= | XP_016869694.1:p.Met258= | |
| XM_024447380.1:c.774G= | XP_024303148.1:p.Met258= | |
| XM_024447381.1:c.1080G= | XP_024303149.1:p.Met360= | |
| XM_024447382.1:c.774G= | XP_024303150.1:p.Met258= | |
| XR_001746160.2:n.2075G= | ||
| XR_001746162.2:n.2280G= | ||
| XR_001746164.1:n.1997G= | ||
| XR_001746166.2:n.2292G= | ||
| NM_001077365.2:c.1905G= MANE Select | NP_001070833.1:p.Met635= | |
| NM_001077366.2:c.1743G= | NP_001070834.1:p.Met581= | |
| NM_001136113.2:c.1905G= | NP_001129585.1:p.Met635= | |
| NM_001136114.2:c.1554G= | NP_001129586.1:p.Met518= | |
| NM_001353193.2:c.1971G= | NP_001340122.2:p.Met657= | |
| NM_001353194.2:c.1743G= | NP_001340123.1:p.Met581= | |
| NM_001353195.2:c.1554G= | NP_001340124.1:p.Met518= | |
| NM_001353196.2:c.1815G= | NP_001340125.1:p.Met605= | |
| NM_001353197.2:c.1809G= | NP_001340126.2:p.Met603= | |
| NM_001353198.2:c.1809G= | NP_001340127.2:p.Met603= | |
| NM_001353199.2:c.1620G= | NP_001340128.2:p.Met540= | |
| NM_001353200.2:c.1449G= | NP_001340129.1:p.Met483= | |
| NM_001374689.1:c.1893G= | NP_001361618.1:p.Met631= | |
| NM_001374690.1:c.1686G= | NP_001361619.1:p.Met562= | |
| NM_001374691.1:c.1554G= | NP_001361620.1:p.Met518= | |
| NM_001374692.1:c.1554G= | NP_001361621.1:p.Met518= | |
| NM_001374693.1:c.1554G= | NP_001361622.1:p.Met518= | |
| NM_001374695.1:c.1515G= | NP_001361624.1:p.Met505= | |
| NM_007171.4:c.1971G= | NP_009102.4:p.Met657= | |
| NR_148391.2:n.1939G= | ||
| NR_148392.2:n.2157G= | ||
| NR_148393.2:n.2078G= | ||
| NR_148394.2:n.1832G= | ||
| NR_148395.2:n.2230G= | ||
| NR_148396.2:n.1864G= | ||
| NR_148397.2:n.1989G= | ||
| NR_148398.2:n.1944G= | ||
| NR_148399.2:n.2470G= | ||
| NR_148400.2:n.2069G= |