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.131511367C>A , CM000671.2:g.131511367C>A | GRCh38 |
| NC_000009.11:g.134386754C>A , CM000671.1:g.134386754C>A | GRCh37 |
| NC_000009.10:g.133376575C>A | NCBI36 |
| NG_008896.1:g.13466C>A | |
| NG_008896.2:g.13466C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.724C>A | ENSP00000343034.7:p.Pro242Thr | |
| ENST00000404875.7:n.1258C>A | ||
| ENST00000423007.6:c.943C>A | ENSP00000404119.2:p.Pro315Thr | |
| ENST00000677295.2:c.*1225C>A | ENSP00000504346.2:n.*1225C>A | |
| ENST00000678264.2:c.*1069C>A | ENSP00000503157.2:n.*1069C>A | |
| ENST00000678942.2:c.*439C>A | ENSP00000504690.2:n.*439C>A | |
| ENST00000682070.1:n.1346C>A | ||
| ENST00000682813.1:n.1151C>A | ||
| ENST00000683134.1:c.253C>A | ||
| ENST00000683392.1:n.3633C>A | ||
| ENST00000683712.1:n.1286C>A | ||
| ENST00000683900.1:n.2213C>A | ||
| ENST00000684062.1:n.1552C>A | ||
| ENST00000684579.1:n.2727C>A | ||
| ENST00000341012.12:c.724C>A | ENSP00000343034.7:p.Pro242Thr | |
| ENST00000372220.5:c.-145-674C>A | ENSP00000361294.5:n.-145-674C>A | |
| ENST00000372228.9:c.952C>A | ENSP00000361302.3:p.Pro318Thr | |
| ENST00000402686.8:c.886C>A MANE Select | ENSP00000385797.4:p.Pro296Thr | |
| ENST00000415075.6:c.*339C>A | ENSP00000405149.2:n.*339C>A | |
| ENST00000676640.1:c.886C>A | ENSP00000503281.1:p.Pro296Thr | |
| ENST00000676803.1:c.61C>A | ENSP00000503093.1:p.Pro21Thr | |
| ENST00000676835.1:c.*96C>A | ENSP00000502911.1:n.*96C>A | |
| ENST00000677029.1:c.430C>A | ENSP00000502936.1:p.Pro144Thr | |
| ENST00000677099.1:c.*596C>A | ENSP00000504553.1:n.*596C>A | |
| ENST00000677216.1:c.535C>A | ENSP00000503772.1:p.Pro179Thr | |
| ENST00000677293.1:c.61C>A | ENSP00000504278.1:p.Pro21Thr | |
| ENST00000677295.1:c.*258C>A | ENSP00000504346.1:n.*258C>A | |
| ENST00000677444.1:c.692C>A | ||
| ENST00000677586.1:n.367C>A | ||
| ENST00000677626.1:c.724C>A | ENSP00000503552.1:p.Pro242Thr | |
| ENST00000677677.1:n.846C>A | ||
| ENST00000677853.1:c.467C>A | ENSP00000503488.1:p.Ala156Asp | |
| ENST00000677944.1:c.148C>A | ||
| ENST00000678264.1:c.*258C>A | ENSP00000503157.1:n.*258C>A | |
| ENST00000678303.1:c.796C>A | ENSP00000503696.1:p.Pro266Thr | |
| ENST00000678366.1:c.*1135C>A | ENSP00000504353.1:n.*1135C>A | |
| ENST00000678546.1:c.*258C>A | ENSP00000503062.1:n.*258C>A | |
| ENST00000678548.1:c.*953C>A | ENSP00000503934.1:n.*953C>A | |
| ENST00000678626.1:n.578C>A | ||
| ENST00000678707.1:n.524C>A | ||
| ENST00000678733.1:c.60C>A | ||
| ENST00000678739.1:c.*1207C>A | ENSP00000503806.1:n.*1207C>A | |
| ENST00000678833.1:c.*333C>A | ENSP00000503893.1:n.*333C>A | |
| ENST00000678942.1:c.61C>A | ENSP00000504690.1:p.Pro21Thr | |
| ENST00000679023.1:c.724C>A | ENSP00000503718.1:p.Pro242Thr | |
| ENST00000679073.1:c.264C>A | ENSP00000504356.1:n.264C>A | |
| ENST00000679076.1:c.500C>A | ||
| ENST00000679111.1:c.886C>A | ENSP00000504257.1:p.Pro296Thr | |
| ENST00000679189.1:c.535C>A | ENSP00000503356.1:p.Pro179Thr | |
| ENST00000341012.11:c.724C>A | ENSP00000343034.7:p.Pro242Thr | |
| ENST00000372228.7:c.952C>A | ENSP00000361302.3:p.Pro318Thr | |
| ENST00000402686.7:c.886C>A | ENSP00000385797.3:p.Pro296Thr | |
| ENST00000404875.6:c.535C>A | ENSP00000384531.2:p.Pro179Thr | |
| ENST00000415075.5:c.278C>A | ENSP00000405149.1:p.Ala93Asp | |
| ENST00000423007.5:c.886C>A | ENSP00000404119.1:p.Pro296Thr | |
| ENST00000441334.5:c.601C>A | ENSP00000395060.1:p.Pro201Thr | |
| ENST00000462375.5:n.707C>A | ||
| ENST00000485278.5:n.868C>A | ||
| NM_001077365.1:c.886C>A | NP_001070833.1:p.Pro296Thr | |
| NM_001077366.1:c.724C>A | NP_001070834.1:p.Pro242Thr | |
| NM_001136113.1:c.886C>A | NP_001129585.1:p.Pro296Thr | |
| NM_001136114.1:c.535C>A | NP_001129586.1:p.Pro179Thr | |
| NM_007171.3:c.952C>A | NP_009102.3:p.Pro318Thr | |
| XM_005272156.1:c.952C>A | XP_005272213.1:p.Pro318Thr | |
| XM_005272158.1:c.790C>A | XP_005272215.1:p.Pro264Thr | |
| XM_005272159.1:c.601C>A | XP_005272216.1:p.Pro201Thr | |
| XM_005272162.1:c.-251C>A | XP_005272219.1:n.-251C>A | |
| XM_006716932.1:c.601C>A | XP_006716995.1:p.Pro201Thr | |
| XM_011518140.1:c.805C>A | XP_011516442.1:p.Pro269Thr | |
| XM_011518141.1:c.739C>A | XP_011516443.1:p.Pro247Thr | |
| XM_011518142.1:c.643C>A | XP_011516444.1:p.Pro215Thr | |
| XM_011518143.1:c.632C>A | XP_011516445.1:p.Ala211Asp | |
| XM_011518144.1:c.952C>A | XP_011516446.1:p.Pro318Thr | |
| XM_011518145.1:c.496C>A | XP_011516447.1:p.Pro166Thr | |
| XM_011518146.1:c.632C>A | XP_011516448.1:p.Ala211Asp | |
| XR_929703.1:n.1128C>A | ||
| NM_001353193.1:c.952C>A | NP_001340122.1:p.Pro318Thr | |
| NM_001353194.1:c.724C>A | NP_001340123.1:p.Pro242Thr | |
| NM_001353195.1:c.535C>A | NP_001340124.1:p.Pro179Thr | |
| NM_001353196.1:c.796C>A | NP_001340125.1:p.Pro266Thr | |
| NM_001353197.1:c.790C>A | NP_001340126.1:p.Pro264Thr | |
| NM_001353198.1:c.790C>A | NP_001340127.1:p.Pro264Thr | |
| NM_001353199.1:c.601C>A | NP_001340128.1:p.Pro201Thr | |
| NM_001353200.1:c.430C>A | NP_001340129.1:p.Pro144Thr | |
| NR_148391.1:n.936C>A | ||
| NR_148392.1:n.1154C>A | ||
| NR_148393.1:n.936C>A | ||
| NR_148394.1:n.824C>A | ||
| NR_148395.1:n.1088C>A | ||
| NR_148396.1:n.717C>A | ||
| NR_148397.1:n.981C>A | ||
| NR_148398.1:n.936C>A | ||
| NR_148399.1:n.1328C>A | ||
| NR_148400.1:n.922C>A | ||
| XM_005272162.3:c.-251C>A | XP_005272219.1:n.-251C>A | |
| XM_006716932.2:c.601C>A | XP_006716995.1:p.Pro201Thr | |
| XM_011518140.2:c.805C>A | XP_011516442.1:p.Pro269Thr | |
| XM_011518141.2:c.739C>A | XP_011516443.1:p.Pro247Thr | |
| XM_011518142.2:c.643C>A | XP_011516444.1:p.Pro215Thr | |
| XM_011518143.2:c.632C>A | XP_011516445.1:p.Ala211Asp | |
| XM_011518145.2:c.496C>A | XP_011516447.1:p.Pro166Thr | |
| XM_017014205.2:c.-251C>A | XP_016869694.1:n.-251C>A | |
| XM_024447380.1:c.-251C>A | XP_024303148.1:n.-251C>A | |
| XM_024447381.1:c.61C>A | XP_024303149.1:p.Pro21Thr | |
| XM_024447382.1:c.-251C>A | XP_024303150.1:n.-251C>A | |
| XR_001746160.2:n.1056C>A | ||
| XR_001746162.2:n.1122C>A | ||
| XR_001746164.1:n.834C>A | ||
| XR_001746166.2:n.1273C>A | ||
| NM_001077365.2:c.886C>A MANE Select | NP_001070833.1:p.Pro296Thr | |
| NM_001077366.2:c.724C>A | NP_001070834.1:p.Pro242Thr | |
| NM_001136113.2:c.886C>A | NP_001129585.1:p.Pro296Thr | |
| NM_001136114.2:c.535C>A | NP_001129586.1:p.Pro179Thr | |
| NM_001353193.2:c.952C>A | NP_001340122.2:p.Pro318Thr | |
| NM_001353194.2:c.724C>A | NP_001340123.1:p.Pro242Thr | |
| NM_001353195.2:c.535C>A | NP_001340124.1:p.Pro179Thr | |
| NM_001353196.2:c.796C>A | NP_001340125.1:p.Pro266Thr | |
| NM_001353197.2:c.790C>A | NP_001340126.2:p.Pro264Thr | |
| NM_001353198.2:c.790C>A | NP_001340127.2:p.Pro264Thr | |
| NM_001353199.2:c.601C>A | NP_001340128.2:p.Pro201Thr | |
| NM_001353200.2:c.430C>A | NP_001340129.1:p.Pro144Thr | |
| NM_001374689.1:c.869C>A | NP_001361618.1:p.Ala290Asp | |
| NM_001374690.1:c.886C>A | NP_001361619.1:p.Pro296Thr | |
| NM_001374691.1:c.535C>A | NP_001361620.1:p.Pro179Thr | |
| NM_001374692.1:c.535C>A | NP_001361621.1:p.Pro179Thr | |
| NM_001374693.1:c.724C>A | NP_001361622.1:p.Pro242Thr | |
| NM_001374695.1:c.496C>A | NP_001361624.1:p.Pro166Thr | |
| NM_007171.4:c.952C>A | NP_009102.4:p.Pro318Thr | |
| NR_148391.2:n.920C>A | ||
| NR_148392.2:n.1138C>A | ||
| NR_148393.2:n.920C>A | ||
| NR_148394.2:n.808C>A | ||
| NR_148395.2:n.1072C>A | ||
| NR_148396.2:n.701C>A | ||
| NR_148397.2:n.965C>A | ||
| NR_148398.2:n.920C>A | ||
| NR_148399.2:n.1312C>A | ||
| NR_148400.2:n.906C>A |