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_000002.12:g.85861199C= , CM000664.2:g.85861199C= | GRCh38 |
| NC_000002.11:g.86088322C= , CM000664.1:g.86088322C= | GRCh37 |
| NC_000002.10:g.85941833C= | NCBI36 |
| NG_012807.1:g.32836G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306262.10:c.*44G= | ENSP00000306247.6:n.*44G= | |
| ENST00000377332.8:c.300G= | ENSP00000366549.4:p.Val100= | |
| ENST00000393805.6:c.216G= | ENSP00000377394.1:p.Val72= | |
| ENST00000393808.8:c.231G= | ENSP00000377397.3:p.Val77= | |
| ENST00000433665.6:c.*343G= | ENSP00000408635.1:n.*343G= | |
| ENST00000461199.6:n.752G= | ||
| ENST00000461892.6:n.305G= | ||
| ENST00000473122.6:c.300G= | ENSP00000491314.1:p.Val100= | |
| ENST00000484728.6:n.311G= | ||
| ENST00000638178.1:c.216G= | ENSP00000492103.1:p.Val72= | |
| ENST00000638227.1:c.*343G= | ENSP00000492602.1:n.*343G= | |
| ENST00000638288.1:c.216G= | ENSP00000491699.1:p.Val72= | |
| ENST00000638321.1:c.197G= | ||
| ENST00000638484.1:c.*343G= | ENSP00000492635.1:n.*343G= | |
| ENST00000638523.1:c.197G= | ||
| ENST00000638542.1:c.206+2163G= | ENSP00000492468.1:n.206+2163G= | |
| ENST00000638572.2:c.300G= MANE Select | ENSP00000491316.1:p.Val100= | |
| ENST00000638581.1:n.326G= | ||
| ENST00000638659.1:c.486G= | ||
| ENST00000638678.1:c.298G= | ||
| ENST00000638855.1:c.206+2163G= | ENSP00000490979.1:n.206+2163G= | |
| ENST00000638885.1:c.300G= | ENSP00000492209.1:p.Val100= | |
| ENST00000638956.1:c.300G= | ENSP00000492097.1:p.Val100= | |
| ENST00000638986.1:c.216G= | ENSP00000491853.1:p.Val72= | |
| ENST00000639119.1:c.300G= | ENSP00000492045.1:p.Val100= | |
| ENST00000639184.1:c.216G= | ENSP00000492305.1:p.Val72= | |
| ENST00000639202.1:c.183G= | ENSP00000492710.1:p.Val61= | |
| ENST00000639216.1:n.322G= | ||
| ENST00000639305.1:c.298G= | ||
| ENST00000639311.1:c.300G= | ENSP00000491398.1:p.Val100= | |
| ENST00000639421.1:c.487G= | ENSP00000491029.1:n.487G= | |
| ENST00000639432.1:c.216G= | ENSP00000491828.1:p.Val72= | |
| ENST00000639519.1:c.102G= | ENSP00000491857.1:p.Val34= | |
| ENST00000639541.1:c.300G= | ENSP00000492280.1:p.Val100= | |
| ENST00000639608.1:c.300G= | ENSP00000492473.1:p.Val100= | |
| ENST00000639690.1:c.400G= | ENSP00000491917.1:n.400G= | |
| ENST00000639820.1:c.*557G= | ENSP00000491802.1:n.*557G= | |
| ENST00000639945.1:c.300G= | ENSP00000492866.1:p.Val100= | |
| ENST00000639981.1:c.206G= | ||
| ENST00000640024.1:c.300G= | ENSP00000491238.1:p.Val100= | |
| ENST00000640222.1:c.221G= | ||
| ENST00000640295.1:c.487G= | ENSP00000491027.1:n.487G= | |
| ENST00000640314.1:c.463G= | ENSP00000491315.1:n.463G= | |
| ENST00000640315.1:c.276G= | ENSP00000492089.1:p.Val92= | |
| ENST00000640322.1:c.216G= | ENSP00000491564.1:p.Val72= | |
| ENST00000640378.1:c.33G= | ENSP00000492030.1:p.Val11= | |
| ENST00000640418.1:c.357G= | ENSP00000492098.1:p.Val119= | |
| ENST00000640425.1:c.283G= | ||
| ENST00000640572.1:c.283G= | ||
| ENST00000640594.1:c.*343G= | ENSP00000491356.1:n.*343G= | |
| ENST00000640763.1:c.19G= | ||
| ENST00000640835.1:c.182G= | ||
| ENST00000640849.1:c.195G= | ENSP00000491701.1:p.Val65= | |
| ENST00000640903.1:c.386G= | ||
| ENST00000640982.1:c.216G= | ENSP00000492299.1:p.Val72= | |
| ENST00000640992.1:c.216G= | ENSP00000492753.1:p.Val72= | |
| ENST00000306262.9:c.300G= | ENSP00000306247.5:p.Val100= | |
| ENST00000377332.7:c.300G= | ENSP00000366549.3:p.Val100= | |
| ENST00000393805.5:c.216G= | ENSP00000377394.1:p.Val72= | |
| ENST00000393808.7:c.231G= | ENSP00000377397.3:p.Val77= | |
| ENST00000433665.5:c.*343G= | ENSP00000408635.1:n.*343G= | |
| ENST00000455892.1:c.216G= | ENSP00000401375.1:p.Val72= | |
| ENST00000461199.5:n.305G= | ||
| ENST00000461892.5:n.303G= | ||
| ENST00000473122.5:n.272G= | ||
| ENST00000484728.5:n.306G= | ||
| NM_001042437.1:c.231G= | NP_001035902.1:p.Val77= | |
| NM_003896.3:c.300G= | NP_003887.3:p.Val100= | |
| XM_005264630.3:c.300G= | XP_005264687.1:p.Val100= | |
| XM_011533143.1:c.-262G= | XP_011531445.1:n.-262G= | |
| XR_939734.1:n.385G= | ||
| XR_939735.1:n.385G= | ||
| XR_939736.1:n.385G= | ||
| NM_001354223.1:c.-262G= | NP_001341152.1:n.-262G= | |
| NM_001354224.1:c.-325G= | NP_001341153.1:n.-325G= | |
| NM_001354226.1:c.-262G= | NP_001341155.1:n.-262G= | |
| NM_001354227.1:c.216G= | NP_001341156.1:p.Val72= | |
| NM_001354229.1:c.216G= | NP_001341158.1:p.Val72= | |
| NM_001354233.1:c.-702G= | NP_001341162.1:n.-702G= | |
| NM_001354234.1:c.-666G= | NP_001341163.1:n.-666G= | |
| NM_001354238.1:c.216G= | NP_001341167.1:p.Val72= | |
| NM_001363847.1:c.300G= | NP_001350776.1:p.Val100= | |
| XM_017005202.2:c.216G= | XP_016860691.1:p.Val72= | |
| XM_017005203.2:c.-765G= | XP_016860692.1:n.-765G= | |
| XM_017005204.2:c.-765G= | XP_016860693.1:n.-765G= | |
| XM_017005205.2:c.-757G= | XP_016860694.1:n.-757G= | |
| XM_017005206.2:c.-666G= | XP_016860695.1:n.-666G= | |
| XM_017005208.2:c.-666G= | XP_016860697.1:n.-666G= | |
| XM_017005209.1:c.-317G= | XP_016860698.1:n.-317G= | |
| XM_017005212.2:c.-226G= | XP_016860701.1:n.-226G= | |
| XM_017005214.2:c.-262G= | XP_016860703.1:n.-262G= | |
| XR_001739019.1:n.385G= | ||
| XR_001739020.1:n.385G= | ||
| XR_001739021.1:n.385G= | ||
| NM_003896.4:c.300G= MANE Select | NP_003887.3:p.Val100= | |
| NM_001042437.2:c.231G= | NP_001035902.1:p.Val77= | |
| NM_001354223.2:c.-262G= | NP_001341152.1:n.-262G= | |
| NM_001354224.2:c.-325G= | NP_001341153.1:n.-325G= | |
| NM_001354226.2:c.-262G= | NP_001341155.1:n.-262G= | |
| NM_001354227.2:c.216G= | NP_001341156.1:p.Val72= | |
| NM_001354229.2:c.216G= | NP_001341158.1:p.Val72= | |
| NM_001354233.2:c.-702G= | NP_001341162.1:n.-702G= |