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.131518454A>C , CM000671.2:g.131518454A>C | GRCh38 |
| NC_000009.11:g.134393841A>C , CM000671.1:g.134393841A>C | GRCh37 |
| NC_000009.10:g.133383662A>C | NCBI36 |
| NG_008896.1:g.20553A>C | |
| NG_008896.2:g.20553A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1120A>C | ENSP00000343034.7:p.Asn374His | |
| ENST00000404875.7:n.1822A>C | ||
| ENST00000423007.6:c.1339A>C | ENSP00000404119.2:p.Asn447His | |
| ENST00000677295.2:c.*1626A>C | ENSP00000504346.2:n.*1626A>C | |
| ENST00000678264.2:c.*1465A>C | ENSP00000503157.2:n.*1465A>C | |
| ENST00000682070.1:n.1747A>C | ||
| ENST00000682535.1:n.54A>C | ||
| ENST00000682539.1:c.220A>C | ||
| ENST00000682813.1:n.1547A>C | ||
| ENST00000683110.1:n.10A>C | ||
| ENST00000683392.1:n.4029A>C | ||
| ENST00000683712.1:n.1687A>C | ||
| ENST00000683900.1:n.3182A>C | ||
| ENST00000684062.1:n.1948A>C | ||
| ENST00000684579.1:n.3128A>C | ||
| ENST00000684679.1:n.509A>C | ||
| ENST00000341012.12:c.1120A>C | ENSP00000343034.7:p.Asn374His | |
| ENST00000372220.5:c.151A>C | ENSP00000361294.5:p.Asn51His | |
| ENST00000372228.9:c.1348A>C | ENSP00000361302.3:p.Asn450His | |
| ENST00000402686.8:c.1282A>C MANE Select | ENSP00000385797.4:p.Asn428His | |
| ENST00000676640.1:c.1282A>C | ENSP00000503281.1:p.Asn428His | |
| ENST00000676803.1:c.457A>C | ENSP00000503093.1:p.Asn153His | |
| ENST00000676835.1:c.*497A>C | ENSP00000502911.1:n.*497A>C | |
| ENST00000677029.1:c.826A>C | ENSP00000502936.1:p.Asn276His | |
| ENST00000677099.1:c.*992A>C | ENSP00000504553.1:n.*992A>C | |
| ENST00000677216.1:c.931A>C | ENSP00000503772.1:p.Asn311His | |
| ENST00000677221.1:n.307A>C | ||
| ENST00000677295.1:c.*659A>C | ENSP00000504346.1:n.*659A>C | |
| ENST00000677444.1:c.1088A>C | ||
| ENST00000677586.1:n.763A>C | ||
| ENST00000677626.1:c.931A>C | ENSP00000503552.1:p.Asn311His | |
| ENST00000677677.1:n.1242A>C | ||
| ENST00000677853.1:c.*290A>C | ENSP00000503488.1:n.*290A>C | |
| ENST00000677944.1:c.544A>C | ||
| ENST00000677983.1:n.371A>C | ||
| ENST00000678202.1:n.302A>C | ||
| ENST00000678264.1:c.*659A>C | ENSP00000503157.1:n.*659A>C | |
| ENST00000678303.1:c.1192A>C | ENSP00000503696.1:p.Asn398His | |
| ENST00000678366.1:c.*1531A>C | ENSP00000504353.1:n.*1531A>C | |
| ENST00000678546.1:c.*1227A>C | ENSP00000503062.1:n.*1227A>C | |
| ENST00000678548.1:c.*1354A>C | ENSP00000503934.1:n.*1354A>C | |
| ENST00000678626.1:n.979A>C | ||
| ENST00000678733.1:c.363A>C | ||
| ENST00000678739.1:c.*1608A>C | ENSP00000503806.1:n.*1608A>C | |
| ENST00000678795.1:n.369A>C | ||
| ENST00000678833.1:c.*729A>C | ENSP00000503893.1:n.*729A>C | |
| ENST00000678942.1:c.462A>C | ENSP00000504690.1:n.462A>C | |
| ENST00000679023.1:c.1120A>C | ENSP00000503718.1:p.Asn374His | |
| ENST00000679076.1:c.901A>C | ||
| ENST00000679111.1:c.1282A>C | ENSP00000504257.1:p.Asn428His | |
| ENST00000679189.1:c.931A>C | ENSP00000503356.1:p.Asn311His | |
| ENST00000341012.11:c.1120A>C | ENSP00000343034.7:p.Asn374His | |
| ENST00000372220.4:c.145A>C | ENSP00000361294.4:p.Asn49His | |
| ENST00000372228.7:c.1348A>C | ENSP00000361302.3:p.Asn450His | |
| ENST00000402686.7:c.1282A>C | ENSP00000385797.3:p.Asn428His | |
| ENST00000404875.6:c.931A>C | ENSP00000384531.2:p.Asn311His | |
| ENST00000423007.5:c.1282A>C | ENSP00000404119.1:p.Asn428His | |
| ENST00000485278.5:n.1837A>C | ||
| NM_001077365.1:c.1282A>C | NP_001070833.1:p.Asn428His | |
| NM_001077366.1:c.1120A>C | NP_001070834.1:p.Asn374His | |
| NM_001136113.1:c.1282A>C | NP_001129585.1:p.Asn428His | |
| NM_001136114.1:c.931A>C | NP_001129586.1:p.Asn311His | |
| NM_007171.3:c.1348A>C | NP_009102.3:p.Asn450His | |
| XM_005272156.1:c.1348A>C | XP_005272213.1:p.Asn450His | |
| XM_005272158.1:c.1186A>C | XP_005272215.1:p.Asn396His | |
| XM_005272159.1:c.997A>C | XP_005272216.1:p.Asn333His | |
| XM_005272162.1:c.151A>C | XP_005272219.1:p.Asn51His | |
| XM_006716932.1:c.997A>C | XP_006716995.1:p.Asn333His | |
| XM_011518140.1:c.1201A>C | XP_011516442.1:p.Asn401His | |
| XM_011518141.1:c.1135A>C | XP_011516443.1:p.Asn379His | |
| XM_011518142.1:c.1039A>C | XP_011516444.1:p.Asn347His | |
| XM_011518143.1:c.1033A>C | XP_011516445.1:p.Asn345His | |
| XM_011518144.1:c.1348A>C | XP_011516446.1:p.Asn450His | |
| XM_011518145.1:c.892A>C | XP_011516447.1:p.Asn298His | |
| XM_011518146.1:c.1033A>C | XP_011516448.1:p.Asn345His | |
| XM_011518147.1:c.220A>C | XP_011516449.1:p.Asn74His | |
| XR_929703.1:n.1524A>C | ||
| NM_001353193.1:c.1348A>C | NP_001340122.1:p.Asn450His | |
| NM_001353194.1:c.1120A>C | NP_001340123.1:p.Asn374His | |
| NM_001353195.1:c.931A>C | NP_001340124.1:p.Asn311His | |
| NM_001353196.1:c.1192A>C | NP_001340125.1:p.Asn398His | |
| NM_001353197.1:c.1186A>C | NP_001340126.1:p.Asn396His | |
| NM_001353198.1:c.1186A>C | NP_001340127.1:p.Asn396His | |
| NM_001353199.1:c.997A>C | NP_001340128.1:p.Asn333His | |
| NM_001353200.1:c.826A>C | NP_001340129.1:p.Asn276His | |
| NR_148391.1:n.1332A>C | ||
| NR_148392.1:n.1550A>C | ||
| NR_148393.1:n.1332A>C | ||
| NR_148394.1:n.1225A>C | ||
| NR_148395.1:n.1484A>C | ||
| NR_148396.1:n.1118A>C | ||
| NR_148397.1:n.1382A>C | ||
| NR_148398.1:n.1337A>C | ||
| NR_148399.1:n.1724A>C | ||
| NR_148400.1:n.1323A>C | ||
| XM_005272162.3:c.151A>C | XP_005272219.1:p.Asn51His | |
| XM_006716932.2:c.997A>C | XP_006716995.1:p.Asn333His | |
| XM_011518140.2:c.1201A>C | XP_011516442.1:p.Asn401His | |
| XM_011518141.2:c.1135A>C | XP_011516443.1:p.Asn379His | |
| XM_011518142.2:c.1039A>C | XP_011516444.1:p.Asn347His | |
| XM_011518143.2:c.1033A>C | XP_011516445.1:p.Asn345His | |
| XM_011518145.2:c.892A>C | XP_011516447.1:p.Asn298His | |
| XM_017014205.2:c.151A>C | XP_016869694.1:p.Asn51His | |
| XM_024447380.1:c.151A>C | XP_024303148.1:p.Asn51His | |
| XM_024447381.1:c.457A>C | XP_024303149.1:p.Asn153His | |
| XM_024447382.1:c.151A>C | XP_024303150.1:p.Asn51His | |
| XR_001746160.2:n.1452A>C | ||
| XR_001746162.2:n.1518A>C | ||
| XR_001746164.1:n.1235A>C | ||
| XR_001746166.2:n.1669A>C | ||
| NM_001077365.2:c.1282A>C MANE Select | NP_001070833.1:p.Asn428His | |
| NM_001077366.2:c.1120A>C | NP_001070834.1:p.Asn374His | |
| NM_001136113.2:c.1282A>C | NP_001129585.1:p.Asn428His | |
| NM_001136114.2:c.931A>C | NP_001129586.1:p.Asn311His | |
| NM_001353193.2:c.1348A>C | NP_001340122.2:p.Asn450His | |
| NM_001353194.2:c.1120A>C | NP_001340123.1:p.Asn374His | |
| NM_001353195.2:c.931A>C | NP_001340124.1:p.Asn311His | |
| NM_001353196.2:c.1192A>C | NP_001340125.1:p.Asn398His | |
| NM_001353197.2:c.1186A>C | NP_001340126.2:p.Asn396His | |
| NM_001353198.2:c.1186A>C | NP_001340127.2:p.Asn396His | |
| NM_001353199.2:c.997A>C | NP_001340128.2:p.Asn333His | |
| NM_001353200.2:c.826A>C | NP_001340129.1:p.Asn276His | |
| NM_001374689.1:c.1270A>C | NP_001361618.1:p.Asn424His | |
| NM_001374690.1:c.1282A>C | NP_001361619.1:p.Asn428His | |
| NM_001374691.1:c.931A>C | NP_001361620.1:p.Asn311His | |
| NM_001374692.1:c.931A>C | NP_001361621.1:p.Asn311His | |
| NM_001374693.1:c.931A>C | NP_001361622.1:p.Asn311His | |
| NM_001374695.1:c.892A>C | NP_001361624.1:p.Asn298His | |
| NM_007171.4:c.1348A>C | NP_009102.4:p.Asn450His | |
| NR_148391.2:n.1316A>C | ||
| NR_148392.2:n.1534A>C | ||
| NR_148393.2:n.1316A>C | ||
| NR_148394.2:n.1209A>C | ||
| NR_148395.2:n.1468A>C | ||
| NR_148396.2:n.1102A>C | ||
| NR_148397.2:n.1366A>C | ||
| NR_148398.2:n.1321A>C | ||
| NR_148399.2:n.1708A>C | ||
| NR_148400.2:n.1307A>C |