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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518472G>A , CM000671.2:g.131518472G>A | GRCh38 |
| NC_000009.11:g.134393859G>A , CM000671.1:g.134393859G>A | GRCh37 |
| NC_000009.10:g.133383680G>A | NCBI36 |
| NG_008896.1:g.20571G>A | |
| NG_008896.2:g.20571G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1138G>A | ENSP00000343034.7:p.Asp380Asn | |
| ENST00000404875.7:n.1840G>A | ||
| ENST00000423007.6:c.1357G>A | ENSP00000404119.2:p.Asp453Asn | |
| ENST00000677295.2:c.*1644G>A | ENSP00000504346.2:n.*1644G>A | |
| ENST00000678264.2:c.*1483G>A | ENSP00000503157.2:n.*1483G>A | |
| ENST00000682070.1:n.1765G>A | ||
| ENST00000682535.1:n.72G>A | ||
| ENST00000682539.1:c.238G>A | ||
| ENST00000682813.1:n.1565G>A | ||
| ENST00000683110.1:n.28G>A | ||
| ENST00000683392.1:n.4047G>A | ||
| ENST00000683712.1:n.1705G>A | ||
| ENST00000683900.1:n.3200G>A | ||
| ENST00000684062.1:n.1966G>A | ||
| ENST00000684579.1:n.3146G>A | ||
| ENST00000684679.1:n.527G>A | ||
| ENST00000341012.12:c.1138G>A | ENSP00000343034.7:p.Asp380Asn | |
| ENST00000372220.5:c.169G>A | ENSP00000361294.5:p.Asp57Asn | |
| ENST00000372228.9:c.1366G>A | ENSP00000361302.3:p.Asp456Asn | |
| ENST00000402686.8:c.1300G>A MANE Select | ENSP00000385797.4:p.Asp434Asn | |
| ENST00000676640.1:c.1300G>A | ENSP00000503281.1:p.Asp434Asn | |
| ENST00000676803.1:c.475G>A | ENSP00000503093.1:p.Asp159Asn | |
| ENST00000676835.1:c.*515G>A | ENSP00000502911.1:n.*515G>A | |
| ENST00000677029.1:c.844G>A | ENSP00000502936.1:p.Asp282Asn | |
| ENST00000677099.1:c.*1010G>A | ENSP00000504553.1:n.*1010G>A | |
| ENST00000677216.1:c.949G>A | ENSP00000503772.1:p.Asp317Asn | |
| ENST00000677221.1:n.325G>A | ||
| ENST00000677295.1:c.*677G>A | ENSP00000504346.1:n.*677G>A | |
| ENST00000677444.1:c.1106G>A | ||
| ENST00000677586.1:n.781G>A | ||
| ENST00000677626.1:c.949G>A | ENSP00000503552.1:p.Asp317Asn | |
| ENST00000677677.1:n.1260G>A | ||
| ENST00000677853.1:c.*308G>A | ENSP00000503488.1:n.*308G>A | |
| ENST00000677983.1:n.389G>A | ||
| ENST00000678202.1:n.320G>A | ||
| ENST00000678264.1:c.*677G>A | ENSP00000503157.1:n.*677G>A | |
| ENST00000678303.1:c.1210G>A | ENSP00000503696.1:p.Asp404Asn | |
| ENST00000678366.1:c.*1549G>A | ENSP00000504353.1:n.*1549G>A | |
| ENST00000678546.1:c.*1245G>A | ENSP00000503062.1:n.*1245G>A | |
| ENST00000678548.1:c.*1372G>A | ENSP00000503934.1:n.*1372G>A | |
| ENST00000678626.1:n.997G>A | ||
| ENST00000678733.1:c.381G>A | ||
| ENST00000678739.1:c.*1626G>A | ENSP00000503806.1:n.*1626G>A | |
| ENST00000678795.1:n.387G>A | ||
| ENST00000678833.1:c.*747G>A | ENSP00000503893.1:n.*747G>A | |
| ENST00000678942.1:c.480G>A | ENSP00000504690.1:n.480G>A | |
| ENST00000679023.1:c.1138G>A | ENSP00000503718.1:p.Asp380Asn | |
| ENST00000679076.1:c.919G>A | ||
| ENST00000679111.1:c.1300G>A | ENSP00000504257.1:p.Asp434Asn | |
| ENST00000679189.1:c.949G>A | ENSP00000503356.1:p.Asp317Asn | |
| ENST00000341012.11:c.1138G>A | ENSP00000343034.7:p.Asp380Asn | |
| ENST00000372220.4:c.163G>A | ENSP00000361294.4:p.Asp55Asn | |
| ENST00000372228.7:c.1366G>A | ENSP00000361302.3:p.Asp456Asn | |
| ENST00000402686.7:c.1300G>A | ENSP00000385797.3:p.Asp434Asn | |
| ENST00000404875.6:c.949G>A | ENSP00000384531.2:p.Asp317Asn | |
| ENST00000423007.5:c.1300G>A | ENSP00000404119.1:p.Asp434Asn | |
| ENST00000485278.5:n.1855G>A | ||
| NM_001077365.1:c.1300G>A | NP_001070833.1:p.Asp434Asn | |
| NM_001077366.1:c.1138G>A | NP_001070834.1:p.Asp380Asn | |
| NM_001136113.1:c.1300G>A | NP_001129585.1:p.Asp434Asn | |
| NM_001136114.1:c.949G>A | NP_001129586.1:p.Asp317Asn | |
| NM_007171.3:c.1366G>A | NP_009102.3:p.Asp456Asn | |
| XM_005272156.1:c.1366G>A | XP_005272213.1:p.Asp456Asn | |
| XM_005272158.1:c.1204G>A | XP_005272215.1:p.Asp402Asn | |
| XM_005272159.1:c.1015G>A | XP_005272216.1:p.Asp339Asn | |
| XM_005272162.1:c.169G>A | XP_005272219.1:p.Asp57Asn | |
| XM_006716932.1:c.1015G>A | XP_006716995.1:p.Asp339Asn | |
| XM_011518140.1:c.1219G>A | XP_011516442.1:p.Asp407Asn | |
| XM_011518141.1:c.1153G>A | XP_011516443.1:p.Asp385Asn | |
| XM_011518142.1:c.1057G>A | XP_011516444.1:p.Asp353Asn | |
| XM_011518143.1:c.1051G>A | XP_011516445.1:p.Asp351Asn | |
| XM_011518144.1:c.1366G>A | XP_011516446.1:p.Asp456Asn | |
| XM_011518145.1:c.910G>A | XP_011516447.1:p.Asp304Asn | |
| XM_011518146.1:c.1051G>A | XP_011516448.1:p.Asp351Asn | |
| XM_011518147.1:c.238G>A | XP_011516449.1:p.Asp80Asn | |
| XR_929703.1:n.1542G>A | ||
| NM_001353193.1:c.1366G>A | NP_001340122.1:p.Asp456Asn | |
| NM_001353194.1:c.1138G>A | NP_001340123.1:p.Asp380Asn | |
| NM_001353195.1:c.949G>A | NP_001340124.1:p.Asp317Asn | |
| NM_001353196.1:c.1210G>A | NP_001340125.1:p.Asp404Asn | |
| NM_001353197.1:c.1204G>A | NP_001340126.1:p.Asp402Asn | |
| NM_001353198.1:c.1204G>A | NP_001340127.1:p.Asp402Asn | |
| NM_001353199.1:c.1015G>A | NP_001340128.1:p.Asp339Asn | |
| NM_001353200.1:c.844G>A | NP_001340129.1:p.Asp282Asn | |
| NR_148391.1:n.1350G>A | ||
| NR_148392.1:n.1568G>A | ||
| NR_148393.1:n.1350G>A | ||
| NR_148394.1:n.1243G>A | ||
| NR_148395.1:n.1502G>A | ||
| NR_148396.1:n.1136G>A | ||
| NR_148397.1:n.1400G>A | ||
| NR_148398.1:n.1355G>A | ||
| NR_148399.1:n.1742G>A | ||
| NR_148400.1:n.1341G>A | ||
| XM_005272162.3:c.169G>A | XP_005272219.1:p.Asp57Asn | |
| XM_006716932.2:c.1015G>A | XP_006716995.1:p.Asp339Asn | |
| XM_011518140.2:c.1219G>A | XP_011516442.1:p.Asp407Asn | |
| XM_011518141.2:c.1153G>A | XP_011516443.1:p.Asp385Asn | |
| XM_011518142.2:c.1057G>A | XP_011516444.1:p.Asp353Asn | |
| XM_011518143.2:c.1051G>A | XP_011516445.1:p.Asp351Asn | |
| XM_011518145.2:c.910G>A | XP_011516447.1:p.Asp304Asn | |
| XM_017014205.2:c.169G>A | XP_016869694.1:p.Asp57Asn | |
| XM_024447380.1:c.169G>A | XP_024303148.1:p.Asp57Asn | |
| XM_024447381.1:c.475G>A | XP_024303149.1:p.Asp159Asn | |
| XM_024447382.1:c.169G>A | XP_024303150.1:p.Asp57Asn | |
| XR_001746160.2:n.1470G>A | ||
| XR_001746162.2:n.1536G>A | ||
| XR_001746164.1:n.1253G>A | ||
| XR_001746166.2:n.1687G>A | ||
| NM_001077365.2:c.1300G>A MANE Select | NP_001070833.1:p.Asp434Asn | |
| NM_001077366.2:c.1138G>A | NP_001070834.1:p.Asp380Asn | |
| NM_001136113.2:c.1300G>A | NP_001129585.1:p.Asp434Asn | |
| NM_001136114.2:c.949G>A | NP_001129586.1:p.Asp317Asn | |
| NM_001353193.2:c.1366G>A | NP_001340122.2:p.Asp456Asn | |
| NM_001353194.2:c.1138G>A | NP_001340123.1:p.Asp380Asn | |
| NM_001353195.2:c.949G>A | NP_001340124.1:p.Asp317Asn | |
| NM_001353196.2:c.1210G>A | NP_001340125.1:p.Asp404Asn | |
| NM_001353197.2:c.1204G>A | NP_001340126.2:p.Asp402Asn | |
| NM_001353198.2:c.1204G>A | NP_001340127.2:p.Asp402Asn | |
| NM_001353199.2:c.1015G>A | NP_001340128.2:p.Asp339Asn | |
| NM_001353200.2:c.844G>A | NP_001340129.1:p.Asp282Asn | |
| NM_001374689.1:c.1288G>A | NP_001361618.1:p.Asp430Asn | |
| NM_001374690.1:c.1300G>A | NP_001361619.1:p.Asp434Asn | |
| NM_001374691.1:c.949G>A | NP_001361620.1:p.Asp317Asn | |
| NM_001374692.1:c.949G>A | NP_001361621.1:p.Asp317Asn | |
| NM_001374693.1:c.949G>A | NP_001361622.1:p.Asp317Asn | |
| NM_001374695.1:c.910G>A | NP_001361624.1:p.Asp304Asn | |
| NM_007171.4:c.1366G>A | NP_009102.4:p.Asp456Asn | |
| NR_148391.2:n.1334G>A | ||
| NR_148392.2:n.1552G>A | ||
| NR_148393.2:n.1334G>A | ||
| NR_148394.2:n.1227G>A | ||
| NR_148395.2:n.1486G>A | ||
| NR_148396.2:n.1120G>A | ||
| NR_148397.2:n.1384G>A | ||
| NR_148398.2:n.1339G>A | ||
| NR_148399.2:n.1726G>A | ||
| NR_148400.2:n.1325G>A |