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_000010.11:g.69922707G= , CM000672.2:g.69922707G= | GRCh38 |
| NC_000010.10:g.71682463G= , CM000672.1:g.71682463G= | GRCh37 |
| NC_000010.9:g.71352469G= | NCBI36 |
| NG_046344.1:g.125820G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398969.8:c.1170-1G= | ENSP00000381941.5:n.1170-1G= | |
| ENST00000673628.2:c.1045-1G= | ENSP00000501050.2:n.1045-1G= | |
| ENST00000673641.2:c.1045-1G= | ENSP00000501125.2:n.1045-1G= | |
| ENST00000673802.2:c.967-1G= | ENSP00000501147.2:n.967-1G= | |
| ENST00000673914.2:c.977-1G= | ENSP00000501202.2:n.977-1G= | |
| ENST00000673957.2:c.1082-1G= | ENSP00000500966.2:n.1082-1G= | |
| ENST00000674008.2:c.1171-1G= | ENSP00000501091.2:n.1171-1G= | |
| ENST00000674040.2:c.1134-1G= | ENSP00000501131.2:n.1134-1G= | |
| ENST00000674124.2:c.798-1G= | ENSP00000501072.2:n.798-1G= | |
| ENST00000682048.1:n.331-1G= | ||
| ENST00000682511.1:n.54-1G= | ||
| ENST00000682679.1:c.1170-1G= | ENSP00000507571.1:n.1170-1G= | |
| ENST00000683194.1:n.568-1G= | ||
| ENST00000683633.1:n.496-1G= | ||
| ENST00000683667.1:n.568-1G= | ||
| ENST00000683993.1:n.331-1G= | ||
| ENST00000684309.1:n.568-1G= | ||
| ENST00000684323.1:n.52-1G= | ||
| ENST00000684376.1:n.54-1G= | ||
| ENST00000684387.1:n.762-1G= | ||
| ENST00000357811.8:c.1108-1G= | ENSP00000350463.4:n.1108-1G= | |
| ENST00000398978.8:c.1111-1G= | ENSP00000381949.3:n.1111-1G= | |
| ENST00000645393.2:c.1144-1G= MANE Select | ENSP00000496051.1:n.1144-1G= | |
| ENST00000673628.1:c.936-1G= | ||
| ENST00000673641.1:c.861-1G= | ||
| ENST00000673802.1:c.783-1G= | ||
| ENST00000673842.1:c.1057-1G= | ENSP00000501058.1:n.1057-1G= | |
| ENST00000673850.1:c.54-1G= | ||
| ENST00000673914.1:c.894-1G= | ||
| ENST00000673931.1:c.63-1G= | ||
| ENST00000673957.1:c.871-1G= | ||
| ENST00000674008.1:c.1134-1G= | ||
| ENST00000674040.1:c.1051-1G= | ||
| ENST00000674050.1:c.422-1G= | ||
| ENST00000674121.1:c.940-1G= | ENSP00000501084.1:n.940-1G= | |
| ENST00000674124.1:c.496-1G= | ENSP00000501072.1:n.496-1G= | |
| ENST00000354547.7:c.1045-1G= | ENSP00000346553.3:n.1045-1G= | |
| ENST00000357811.7:c.1045-1G= | ENSP00000350463.3:n.1045-1G= | |
| ENST00000398969.7:c.931-1G= | ENSP00000381941.4:n.931-1G= | |
| ENST00000398978.7:c.1111-1G= | ENSP00000381949.3:n.1111-1G= | |
| ENST00000479733.5:c.1138-1G= | ENSP00000430089.1:n.1138-1G= | |
| ENST00000517713.5:c.1045-1G= | ENSP00000430061.1:n.1045-1G= | |
| ENST00000520133.5:c.958-1G= | ENSP00000430173.1:n.958-1G= | |
| ENST00000520267.5:c.940-1G= | ENSP00000428057.1:n.940-1G= | |
| ENST00000522165.5:c.1054-1G= | ENSP00000428342.1:n.1054-1G= | |
| NM_001130103.1:c.1111-1G= | NP_001123575.1:n.1111-1G= | |
| NM_080798.3:c.940-1G= | NP_542988.3:n.940-1G= | |
| NM_080800.3:c.1054-1G= | NP_542990.3:n.1054-1G= | |
| NM_080801.3:c.1045-1G= | NP_542991.3:n.1045-1G= | |
| NM_080802.3:c.1045-1G= | NP_542992.3:n.1045-1G= | |
| NM_080805.3:c.958-1G= | NP_542995.3:n.958-1G= | |
| XM_011539292.1:c.1144-1G= | XP_011537594.1:n.1144-1G= | |
| XM_011539293.1:c.1144-1G= | XP_011537595.1:n.1144-1G= | |
| XM_011539294.1:c.1081-1G= | XP_011537596.1:n.1081-1G= | |
| XM_011539295.1:c.1144-1G= | XP_011537597.1:n.1144-1G= | |
| XM_011539296.1:c.*50-1G= | XP_011537598.1:n.*50-1G= | |
| NM_001320951.1:c.1081-1G= | NP_001307880.1:n.1081-1G= | |
| XM_011539292.3:c.1144-1G= | XP_011537594.1:n.1144-1G= | |
| XM_011539293.3:c.1144-1G= | XP_011537595.1:n.1144-1G= | |
| XM_011539294.3:c.1081-1G= | XP_011537596.1:n.1081-1G= | |
| XM_011539295.3:c.1144-1G= | XP_011537597.1:n.1144-1G= | |
| XM_017015676.2:c.1144-1G= | XP_016871165.1:n.1144-1G= | |
| XM_017015677.2:c.1144-1G= | XP_016871166.1:n.1144-1G= | |
| XM_017015679.2:c.1144-1G= | XP_016871168.1:n.1144-1G= | |
| XM_017015680.2:c.1144-1G= | XP_016871169.1:n.1144-1G= | |
| XM_017015681.2:c.1081-1G= | XP_016871170.1:n.1081-1G= | |
| XM_017015682.2:c.1144-1G= | XP_016871171.1:n.1144-1G= | |
| XM_017015683.2:c.1108-1G= | XP_016871172.1:n.1108-1G= | |
| XM_017015684.2:c.1045-1G= | XP_016871173.1:n.1045-1G= | |
| XM_017015685.2:c.1081-1G= | XP_016871174.1:n.1081-1G= | |
| XM_017015686.2:c.1081-1G= | XP_016871175.1:n.1081-1G= | |
| XM_017015687.2:c.1144-1G= | XP_016871176.1:n.1144-1G= | |
| XM_017015688.2:c.1081-1G= | XP_016871177.1:n.1081-1G= | |
| XM_017015689.2:c.1081-1G= | XP_016871178.1:n.1081-1G= | |
| XM_017015690.2:c.1054-1G= | XP_016871179.1:n.1054-1G= | |
| XM_017015691.2:c.1081-1G= | XP_016871180.1:n.1081-1G= | |
| XM_017015692.2:c.1045-1G= | XP_016871181.1:n.1045-1G= | |
| XM_017015693.2:c.1081-1G= | XP_016871182.1:n.1081-1G= | |
| XM_017015694.2:c.940-1G= | XP_016871183.1:n.940-1G= | |
| XM_017015695.2:c.940-1G= | XP_016871184.1:n.940-1G= | |
| XM_017015697.2:c.481-1G= | XP_016871186.1:n.481-1G= | |
| XM_024447815.1:c.1144-1G= | XP_024303583.1:n.1144-1G= | |
| XM_024447816.1:c.958-1G= | XP_024303584.1:n.958-1G= | |
| XM_024447817.1:c.967-1G= | XP_024303585.1:n.967-1G= | |
| XM_024447818.1:c.940-1G= | XP_024303586.1:n.940-1G= | |
| XR_001747024.2:n.1707-1G= | ||
| NM_001130103.2:c.1111-1G= | NP_001123575.1:n.1111-1G= | |
| NM_001320951.2:c.1081-1G= | NP_001307880.1:n.1081-1G= | |
| NM_001368882.1:c.1144-1G= MANE Select | NP_001355811.1:n.1144-1G= | |
| NM_001368883.1:c.1108-1G= | NP_001355812.1:n.1108-1G= | |
| NM_001368884.1:c.1081-1G= | NP_001355813.1:n.1081-1G= | |
| NM_001368885.1:c.1045-1G= | NP_001355814.1:n.1045-1G= | |
| NM_001368886.1:c.481-1G= | NP_001355815.1:n.481-1G= | |
| NM_001368895.1:c.1054-1G= | NP_001355824.1:n.1054-1G= | |
| NM_001368896.1:c.940-1G= | NP_001355825.1:n.940-1G= | |
| NM_001368897.1:c.967-1G= | NP_001355826.1:n.967-1G= | |
| NM_001368898.1:c.940-1G= | NP_001355827.1:n.940-1G= | |
| NM_080798.4:c.940-1G= | NP_542988.3:n.940-1G= | |
| NM_080800.4:c.1054-1G= | NP_542990.3:n.1054-1G= | |
| NM_080801.4:c.1045-1G= | NP_542991.3:n.1045-1G= | |
| NM_080802.4:c.1045-1G= | NP_542992.3:n.1045-1G= | |
| NM_080805.4:c.958-1G= | NP_542995.3:n.958-1G= |