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_000017.11:g.82924921C= , CM000679.2:g.82924921C= | GRCh38 |
| NC_000017.10:g.80882797C= , CM000679.1:g.80882797C= | GRCh37 |
| NC_000017.9:g.78476086C= | NCBI36 |
| NG_011721.1:g.177858C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1469-18C= | ||
| ENST00000576677.6:n.1390-18C= | ||
| ENST00000681983.1:n.2397-18C= | ||
| ENST00000682099.1:n.1158-18C= | ||
| ENST00000682213.1:c.*232-18C= | ENSP00000508166.1:n.*232-18C= | |
| ENST00000682315.1:c.575-18C= | ENSP00000507232.1:n.575-18C= | |
| ENST00000682479.1:c.2351-18C= | ENSP00000508214.1:n.2351-18C= | |
| ENST00000682610.1:n.1501-18C= | ||
| ENST00000682654.1:c.*232-18C= | ENSP00000507412.1:n.*232-18C= | |
| ENST00000682722.1:c.2210-18C= | ENSP00000508364.1:n.2210-18C= | |
| ENST00000683041.1:c.*232-18C= | ENSP00000506994.1:n.*232-18C= | |
| ENST00000683184.1:c.*1914-18C= | ENSP00000507757.1:n.*1914-18C= | |
| ENST00000683282.1:c.2177-18C= | ENSP00000506913.1:n.2177-18C= | |
| ENST00000683444.1:c.*1838-18C= | ENSP00000507553.1:n.*1838-18C= | |
| ENST00000683584.1:n.1084-18C= | ||
| ENST00000683821.1:c.575-18C= | ENSP00000507651.1:n.575-18C= | |
| ENST00000683839.1:n.1715-18C= | ||
| ENST00000684000.1:c.2345-18C= | ENSP00000506795.1:n.2345-18C= | |
| ENST00000684188.1:c.2072-18C= | ENSP00000507153.1:n.2072-18C= | |
| ENST00000684349.1:c.2447-18C= | ENSP00000508067.1:n.2447-18C= | |
| ENST00000684361.1:c.2261-18C= | ENSP00000507364.1:n.2261-18C= | |
| ENST00000684408.1:c.1904-18C= | ENSP00000506837.1:n.1904-18C= | |
| ENST00000684429.1:c.2189-18C= | ENSP00000507224.1:n.2189-18C= | |
| ENST00000684464.1:c.2354-18C= | ENSP00000508333.1:n.2354-18C= | |
| ENST00000684544.1:c.2180-18C= | ENSP00000507337.1:n.2180-18C= | |
| ENST00000684559.1:n.1016-18C= | ||
| ENST00000684760.1:c.2528-18C= | ENSP00000507696.1:n.2528-18C= | |
| ENST00000684776.1:c.*744-18C= | ENSP00000507861.1:n.*744-18C= | |
| ENST00000355528.9:c.2261-18C= MANE Select | ENSP00000347719.4:n.2261-18C= | |
| ENST00000355528.8:c.2261-18C= | ENSP00000347719.4:n.2261-18C= | |
| ENST00000539345.6:c.2261-18C= | ENSP00000440671.2:n.2261-18C= | |
| ENST00000571618.5:n.439-18C= | ||
| ENST00000571796.5:n.919-18C= | ||
| ENST00000574422.1:c.575-18C= | ENSP00000458599.1:n.575-18C= | |
| ENST00000574818.5:n.319-18C= | ||
| ENST00000574886.1:n.645-18C= | ||
| ENST00000574975.5:c.638-18C= | ENSP00000461680.1:n.638-18C= | |
| ENST00000576760.5:c.575-18C= | ENSP00000460949.1:n.575-18C= | |
| NM_005993.4:c.2261-18C= | NP_005984.3:n.2261-18C= | |
| XM_005256396.3:c.2210-18C= | XP_005256453.1:n.2210-18C= | |
| XM_005256399.3:c.977-18C= | XP_005256456.1:n.977-18C= | |
| XM_005256400.3:c.575-18C= | XP_005256457.1:n.575-18C= | |
| XM_005256401.3:c.575-18C= | XP_005256458.1:n.575-18C= | |
| XM_005256402.3:c.575-18C= | XP_005256459.1:n.575-18C= | |
| XM_005256403.3:c.575-18C= | XP_005256460.1:n.575-18C= | |
| XM_005256404.3:c.575-18C= | XP_005256461.1:n.575-18C= | |
| XM_006722290.2:c.2180-18C= | XP_006722353.1:n.2180-18C= | |
| XM_006722291.2:c.965-18C= | XP_006722354.1:n.965-18C= | |
| XM_006722292.2:c.575-18C= | XP_006722355.1:n.575-18C= | |
| XM_011523589.1:c.1916-18C= | XP_011521891.1:n.1916-18C= | |
| XM_011523590.1:c.1904-18C= | XP_011521892.1:n.1904-18C= | |
| XM_011523591.1:c.1901-18C= | XP_011521893.1:n.1901-18C= | |
| XM_011523592.1:c.1814-18C= | XP_011521894.1:n.1814-18C= | |
| XM_011523593.1:c.1508-18C= | XP_011521895.1:n.1508-18C= | |
| XM_011523594.1:c.989-18C= | XP_011521896.1:n.989-18C= | |
| XM_011523595.1:c.956-18C= | XP_011521897.1:n.956-18C= | |
| XM_011523596.1:c.2179-18C= | XP_011521898.1:n.2179-18C= | |
| XM_011523597.1:c.722-18C= | XP_011521899.1:n.722-18C= | |
| XM_011523598.1:c.719-18C= | XP_011521900.1:n.719-18C= | |
| XM_011523599.1:c.713-18C= | XP_011521901.1:n.713-18C= | |
| XM_011523600.1:c.575-18C= | XP_011521902.1:n.575-18C= | |
| XR_430033.2:n.2369-18C= | ||
| XM_005256396.4:c.2210-18C= | XP_005256453.1:n.2210-18C= | |
| XM_005256399.5:c.977-18C= | XP_005256456.1:n.977-18C= | |
| XM_005256404.4:c.575-18C= | XP_005256461.1:n.575-18C= | |
| XM_006722291.4:c.965-18C= | XP_006722354.1:n.965-18C= | |
| XM_006722292.3:c.575-18C= | XP_006722355.1:n.575-18C= | |
| XM_011523589.2:c.1916-18C= | XP_011521891.1:n.1916-18C= | |
| XM_011523591.2:c.1901-18C= | XP_011521893.1:n.1901-18C= | |
| XM_011523593.2:c.1508-18C= | XP_011521895.1:n.1508-18C= | |
| XM_011523594.2:c.989-18C= | XP_011521896.1:n.989-18C= | |
| XM_011523595.3:c.956-18C= | XP_011521897.1:n.956-18C= | |
| XM_011523597.2:c.722-18C= | XP_011521899.1:n.722-18C= | |
| XM_011523599.2:c.713-18C= | XP_011521901.1:n.713-18C= | |
| XM_011523600.3:c.575-18C= | XP_011521902.1:n.575-18C= | |
| XM_017024987.1:c.2072-18C= | XP_016880476.1:n.2072-18C= | |
| XM_017024989.1:c.623-18C= | XP_016880478.1:n.623-18C= | |
| XM_017024990.2:c.575-18C= | XP_016880479.1:n.575-18C= | |
| XM_024450899.1:c.575-18C= | XP_024306667.1:n.575-18C= | |
| XM_024450900.1:c.575-18C= | XP_024306668.1:n.575-18C= | |
| XM_024450901.1:c.575-18C= | XP_024306669.1:n.575-18C= | |
| XM_024450902.1:c.575-18C= | XP_024306670.1:n.575-18C= | |
| XR_001752597.1:n.2369-18C= | ||
| XR_001752598.1:n.2369-18C= | ||
| XR_001752599.1:n.2369-18C= | ||
| XR_001752600.1:n.2287-18C= | ||
| NM_005993.5:c.2261-18C= MANE Select | NP_005984.3:n.2261-18C= |