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_000014.9:g.88610930C>G , CM000676.2:g.88610930C>G | GRCh38 |
| NC_000014.8:g.89077274C>G , CM000676.1:g.89077274C>G | GRCh37 |
| NC_000014.7:g.88147027C>G | NCBI36 |
| NG_050601.1:g.53022C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2194C>G MANE Select | ENSP00000251038.5:p.Pro732Ala | |
| ENST00000649731.1:c.*1402C>G | ENSP00000497757.1:n.*1402C>G | |
| ENST00000251038.9:c.2194C>G | ENSP00000251038.5:p.Pro732Ala | |
| ENST00000302216.12:c.1723C>G | ENSP00000307025.8:p.Pro575Ala | |
| ENST00000318308.10:c.904C>G | ENSP00000327176.6:p.Pro302Ala | |
| ENST00000336693.8:c.1699C>G | ENSP00000338002.4:p.Pro567Ala | |
| ENST00000393514.9:c.2119C>G | ENSP00000377150.5:p.Pro707Ala | |
| ENST00000406216.7:c.832C>G | ENSP00000384682.3:p.Pro278Ala | |
| ENST00000554020.5:n.1037C>G | ||
| ENST00000555755.5:c.2176C>G | ENSP00000452475.1:p.Pro726Ala | |
| ENST00000555792.1:c.439C>G | ENSP00000450823.1:p.Pro147Ala | |
| ENST00000555851.6:n.353C>G | ||
| ENST00000555900.5:c.1300C>G | ENSP00000451530.1:p.Pro434Ala | |
| ENST00000556000.5:c.1938C>G | ||
| ENST00000556945.5:c.1801C>G | ENSP00000450474.1:p.Pro601Ala | |
| ENST00000557491.1:n.1479C>G | ||
| ENST00000557607.5:c.1246C>G | ENSP00000452370.1:p.Pro416Ala | |
| NM_001160103.1:c.2191C>G | NP_001153575.1:p.Pro731Ala | |
| NM_001160104.1:c.2176C>G | NP_001153576.1:p.Pro726Ala | |
| NM_024824.4:c.2194C>G | NP_079100.2:p.Pro732Ala | |
| NM_207660.3:c.1723C>G | NP_997543.1:p.Pro575Ala | |
| NM_207661.2:c.1699C>G | NP_997544.1:p.Pro567Ala | |
| NM_207662.3:c.904C>G | NP_997545.2:p.Pro302Ala | |
| XM_005268067.3:c.2179C>G | XP_005268124.1:p.Pro727Ala | |
| XM_005268068.3:c.2119C>G | XP_005268125.1:p.Pro707Ala | |
| XM_005268069.3:c.1801C>G | XP_005268126.1:p.Pro601Ala | |
| XM_005268070.3:c.1798C>G | XP_005268127.1:p.Pro600Ala | |
| XM_005268071.3:c.1726C>G | XP_005268128.1:p.Pro576Ala | |
| XM_005268073.3:c.1300C>G | XP_005268130.1:p.Pro434Ala | |
| XM_006720257.2:c.1225C>G | XP_006720320.1:p.Pro409Ala | |
| XM_011537160.1:c.2092C>G | XP_011535462.1:p.Pro698Ala | |
| XM_011537161.1:c.2038C>G | XP_011535463.1:p.Pro680Ala | |
| NM_001326295.1:c.1801C>G | NP_001313224.1:p.Pro601Ala | |
| NM_001326296.1:c.2116C>G | NP_001313225.1:p.Pro706Ala | |
| NM_001326297.1:c.2092C>G | NP_001313226.1:p.Pro698Ala | |
| NM_001326298.1:c.1726C>G | NP_001313227.1:p.Pro576Ala | |
| NM_001326299.1:c.2101C>G | NP_001313228.1:p.Pro701Ala | |
| NM_001326300.1:c.1729C>G | NP_001313229.1:p.Pro577Ala | |
| NM_001326301.1:c.2017C>G | NP_001313230.1:p.Pro673Ala | |
| NM_001326302.1:c.1726C>G | NP_001313231.1:p.Pro576Ala | |
| NM_001326303.1:c.1621C>G | NP_001313232.1:p.Pro541Ala | |
| NM_001326304.1:c.1333C>G | NP_001313233.1:p.Pro445Ala | |
| NM_001326305.1:c.1654C>G | NP_001313234.1:p.Pro552Ala | |
| NM_001326306.1:c.1567C>G | NP_001313235.1:p.Pro523Ala | |
| NM_001326307.1:c.2119C>G | NP_001313236.1:p.Pro707Ala | |
| NM_001326308.1:c.1336C>G | NP_001313237.1:p.Pro446Ala | |
| NM_001326309.1:c.1261C>G | NP_001313238.1:p.Pro421Ala | |
| NM_001326310.1:c.2179C>G | NP_001313239.1:p.Pro727Ala | |
| NM_001326311.1:c.1258C>G | NP_001313240.1:p.Pro420Ala | |
| NM_001326312.1:c.2104C>G | NP_001313241.1:p.Pro702Ala | |
| NM_001326313.1:c.1570C>G | NP_001313242.1:p.Pro524Ala | |
| NM_001326314.1:c.1651C>G | NP_001313243.1:p.Pro551Ala | |
| NM_001326315.1:c.2089C>G | NP_001313244.1:p.Pro697Ala | |
| NM_001326316.1:c.2089C>G | NP_001313245.1:p.Pro697Ala | |
| NR_136936.1:n.2259C>G | ||
| XM_005268070.5:c.1798C>G | XP_005268127.1:p.Pro600Ala | |
| XM_005268073.4:c.1300C>G | XP_005268130.1:p.Pro434Ala | |
| XM_006720257.3:c.1225C>G | XP_006720320.1:p.Pro409Ala | |
| XM_011537161.3:c.2038C>G | XP_011535463.1:p.Pro680Ala | |
| XM_024449713.1:c.1222C>G | XP_024305481.1:p.Pro408Ala | |
| NM_024824.5:c.2194C>G MANE Select | NP_079100.2:p.Pro732Ala | |
| NM_001160103.2:c.2191C>G | NP_001153575.1:p.Pro731Ala | |
| NM_001160104.2:c.2176C>G | NP_001153576.1:p.Pro726Ala | |
| NM_001326295.2:c.1801C>G | NP_001313224.1:p.Pro601Ala | |
| NM_001326296.2:c.2116C>G | NP_001313225.1:p.Pro706Ala | |
| NM_001326297.2:c.2092C>G | NP_001313226.1:p.Pro698Ala | |
| NM_001326298.2:c.1726C>G | NP_001313227.1:p.Pro576Ala | |
| NM_001326299.2:c.2101C>G | NP_001313228.1:p.Pro701Ala | |
| NM_001326300.2:c.1729C>G | NP_001313229.1:p.Pro577Ala | |
| NM_001326301.2:c.2017C>G | NP_001313230.1:p.Pro673Ala | |
| NM_001326302.2:c.1726C>G | NP_001313231.1:p.Pro576Ala | |
| NM_001326303.2:c.1621C>G | NP_001313232.1:p.Pro541Ala | |
| NM_001326304.2:c.1333C>G | NP_001313233.1:p.Pro445Ala | |
| NM_001326305.2:c.1654C>G | NP_001313234.1:p.Pro552Ala | |
| NM_001326306.2:c.1567C>G | NP_001313235.1:p.Pro523Ala | |
| NM_001326307.2:c.2119C>G | NP_001313236.1:p.Pro707Ala | |
| NM_001326308.2:c.1336C>G | NP_001313237.1:p.Pro446Ala | |
| NM_001326309.2:c.1261C>G | NP_001313238.1:p.Pro421Ala | |
| NM_001326310.2:c.2179C>G | NP_001313239.1:p.Pro727Ala | |
| NM_001326311.2:c.1258C>G | NP_001313240.1:p.Pro420Ala | |
| NM_001326312.2:c.2104C>G | NP_001313241.1:p.Pro702Ala | |
| NM_001326313.2:c.1570C>G | NP_001313242.1:p.Pro524Ala | |
| NM_001326314.2:c.1651C>G | NP_001313243.1:p.Pro551Ala | |
| NM_001326315.2:c.2089C>G | NP_001313244.1:p.Pro697Ala | |
| NM_207660.4:c.1723C>G | NP_997543.1:p.Pro575Ala | |
| NM_207662.4:c.904C>G | NP_997545.2:p.Pro302Ala | |
| NR_136936.2:n.2131C>G | ||
| NM_001326316.2:c.2089C>G | NP_001313245.1:p.Pro697Ala | |
| NM_207661.3:c.1699C>G | NP_997544.1:p.Pro567Ala |