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_000007.14:g.50382680C>G , CM000669.2:g.50382680C>G | GRCh38 |
| NC_000007.13:g.50450378C>G , CM000669.1:g.50450378C>G | GRCh37 |
| NC_000007.12:g.50417872C>G | NCBI36 |
| NG_034231.1:g.83598C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642219.2:c.361C>G | ENSP00000496655.2:p.Leu121Val | |
| ENST00000698573.1:c.301C>G | ENSP00000513804.1:p.Leu101Val | |
| ENST00000698574.1:c.622C>G | ENSP00000513805.1:p.Leu208Val | |
| ENST00000698575.1:c.421+5887C>G | ENSP00000513806.1:n.421+5887C>G | |
| ENST00000331340.8:c.562C>G MANE Select | ENSP00000331614.3:p.Leu188Val | |
| ENST00000439701.2:c.562C>G | ENSP00000413025.1:p.Leu188Val | |
| ENST00000645066.1:c.301C>G | ENSP00000494055.1:p.Leu101Val | |
| ENST00000331340.7:c.562C>G | ENSP00000331614.3:p.Leu188Val | |
| ENST00000343574.9:c.301C>G | ENSP00000342750.5:p.Leu101Val | |
| ENST00000346667.8:c.41-17238C>G | ENSP00000340080.5:n.41-17238C>G | |
| ENST00000349824.8:c.421+5887C>G | ENSP00000342485.4:n.421+5887C>G | |
| ENST00000357364.8:c.562C>G | ENSP00000349928.4:p.Leu188Val | |
| ENST00000359197.9:c.562C>G | ENSP00000352123.5:p.Leu188Val | |
| ENST00000426121.1:c.110-17238C>G | ENSP00000409588.1:n.110-17238C>G | |
| ENST00000438033.5:c.301C>G | ENSP00000396554.1:p.Leu101Val | |
| ENST00000439701.1:c.562C>G | ENSP00000413025.1:p.Leu188Val | |
| ENST00000440768.6:c.41-9049C>G | ENSP00000401507.3:n.41-9049C>G | |
| ENST00000471793.1:n.781C>G | ||
| ENST00000612658.4:c.294+67C>G | ENSP00000483016.1:n.294+67C>G | |
| ENST00000615491.4:c.41-4665C>G | ENSP00000478368.1:n.41-4665C>G | |
| NM_001220765.2:c.562C>G | NP_001207694.1:p.Leu188Val | |
| NM_001220767.2:c.301C>G | NP_001207696.1:p.Leu101Val | |
| NM_001220768.2:c.562C>G | NP_001207697.1:p.Leu188Val | |
| NM_001220770.2:c.301C>G | NP_001207699.1:p.Leu101Val | |
| NM_001220771.2:c.421+5887C>G | NP_001207700.1:n.421+5887C>G | |
| NM_001291837.1:c.562C>G | NP_001278766.1:p.Leu188Val | |
| NM_001291838.1:c.301C>G | NP_001278767.1:p.Leu101Val | |
| NM_001291839.1:c.301C>G | NP_001278768.1:p.Leu101Val | |
| NM_001291840.1:c.161-17238C>G | NP_001278769.1:n.161-17238C>G | |
| NM_001291841.1:c.161-4665C>G | NP_001278770.1:n.161-4665C>G | |
| NM_001291842.1:c.161-4665C>G | NP_001278771.1:n.161-4665C>G | |
| NM_001291843.1:c.161-9049C>G | NP_001278772.1:n.161-9049C>G | |
| NM_001291844.1:c.161-9049C>G | NP_001278773.1:n.161-9049C>G | |
| NM_006060.5:c.562C>G | NP_006051.1:p.Leu188Val | |
| XM_011515058.1:c.694C>G | XP_011513360.1:p.Leu232Val | |
| XM_011515059.1:c.694C>G | XP_011513361.1:p.Leu232Val | |
| XM_011515060.1:c.652C>G | XP_011513362.1:p.Leu218Val | |
| XM_011515061.1:c.634C>G | XP_011513363.1:p.Leu212Val | |
| XM_011515062.1:c.622C>G | XP_011513364.1:p.Leu208Val | |
| XM_011515063.1:c.622C>G | XP_011513365.1:p.Leu208Val | |
| XM_011515064.1:c.622C>G | XP_011513366.1:p.Leu208Val | |
| XM_011515065.1:c.622C>G | XP_011513367.1:p.Leu208Val | |
| XM_011515066.1:c.622C>G | XP_011513368.1:p.Leu208Val | |
| XM_011515067.1:c.694C>G | XP_011513369.1:p.Leu232Val | |
| XM_011515068.1:c.562C>G | XP_011513370.1:p.Leu188Val | |
| XM_011515069.1:c.562C>G | XP_011513371.1:p.Leu188Val | |
| XM_011515070.1:c.634C>G | XP_011513372.1:p.Leu212Val | |
| XM_011515071.1:c.433C>G | XP_011513373.1:p.Leu145Val | |
| XM_011515072.1:c.373C>G | XP_011513374.1:p.Leu125Val | |
| XM_011515073.1:c.361C>G | XP_011513375.1:p.Leu121Val | |
| XM_011515074.1:c.373C>G | XP_011513376.1:p.Leu125Val | |
| XM_011515075.1:c.301C>G | XP_011513377.1:p.Leu101Val | |
| XM_011515076.1:c.301C>G | XP_011513378.1:p.Leu101Val | |
| XM_011515077.1:c.373C>G | XP_011513379.1:p.Leu125Val | |
| XM_011515078.1:c.373C>G | XP_011513380.1:p.Leu125Val | |
| NM_006060.6:c.562C>G MANE Select | NP_006051.1:p.Leu188Val | |
| XM_011515058.2:c.694C>G | XP_011513360.1:p.Leu232Val | |
| XM_011515059.3:c.694C>G | XP_011513361.1:p.Leu232Val | |
| XM_011515060.2:c.652C>G | XP_011513362.1:p.Leu218Val | |
| XM_011515061.3:c.634C>G | XP_011513363.1:p.Leu212Val | |
| XM_011515062.2:c.622C>G | XP_011513364.1:p.Leu208Val | |
| XM_011515063.2:c.622C>G | XP_011513365.1:p.Leu208Val | |
| XM_011515064.3:c.622C>G | XP_011513366.1:p.Leu208Val | |
| XM_011515065.2:c.622C>G | XP_011513367.1:p.Leu208Val | |
| XM_011515066.2:c.622C>G | XP_011513368.1:p.Leu208Val | |
| XM_011515067.3:c.694C>G | XP_011513369.1:p.Leu232Val | |
| XM_011515068.2:c.562C>G | XP_011513370.1:p.Leu188Val | |
| XM_011515069.2:c.562C>G | XP_011513371.1:p.Leu188Val | |
| XM_011515070.2:c.634C>G | XP_011513372.1:p.Leu212Val | |
| XM_011515071.2:c.433C>G | XP_011513373.1:p.Leu145Val | |
| XM_011515072.2:c.373C>G | XP_011513374.1:p.Leu125Val | |
| XM_011515073.2:c.361C>G | XP_011513375.1:p.Leu121Val | |
| XM_011515074.2:c.373C>G | XP_011513376.1:p.Leu125Val | |
| XM_011515075.2:c.301C>G | XP_011513377.1:p.Leu101Val | |
| XM_011515076.2:c.301C>G | XP_011513378.1:p.Leu101Val | |
| XM_011515077.2:c.373C>G | XP_011513379.1:p.Leu125Val | |
| XM_011515078.2:c.373C>G | XP_011513380.1:p.Leu125Val | |
| XM_017011667.1:c.361C>G | XP_016867156.1:p.Leu121Val | |
| XM_017011668.1:c.301C>G | XP_016867157.1:p.Leu101Val | |
| XM_017011669.1:c.562C>G | XP_016867158.1:p.Leu188Val | |
| XM_017011670.1:c.562C>G | XP_016867159.1:p.Leu188Val | |
| NM_001220765.3:c.562C>G | NP_001207694.1:p.Leu188Val | |
| NM_001291837.2:c.562C>G | NP_001278766.1:p.Leu188Val | |
| NM_001291838.2:c.301C>G | NP_001278767.1:p.Leu101Val | |
| NM_001291839.2:c.301C>G | NP_001278768.1:p.Leu101Val |