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_000014.9:g.88610894A>G , CM000676.2:g.88610894A>G | GRCh38 |
| NC_000014.8:g.89077238A>G , CM000676.1:g.89077238A>G | GRCh37 |
| NC_000014.7:g.88146991A>G | NCBI36 |
| NG_050601.1:g.52986A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2158A>G MANE Select | ENSP00000251038.5:p.Asn720Asp | |
| ENST00000649731.1:c.*1366A>G | ENSP00000497757.1:n.*1366A>G | |
| ENST00000251038.9:c.2158A>G | ENSP00000251038.5:p.Asn720Asp | |
| ENST00000302216.12:c.1687A>G | ENSP00000307025.8:p.Asn563Asp | |
| ENST00000318308.10:c.868A>G | ENSP00000327176.6:p.Asn290Asp | |
| ENST00000336693.8:c.1663A>G | ENSP00000338002.4:p.Asn555Asp | |
| ENST00000393514.9:c.2083A>G | ENSP00000377150.5:p.Asn695Asp | |
| ENST00000406216.7:c.796A>G | ENSP00000384682.3:p.Asn266Asp | |
| ENST00000554020.5:n.1001A>G | ||
| ENST00000555755.5:c.2140A>G | ENSP00000452475.1:p.Asn714Asp | |
| ENST00000555792.1:c.403A>G | ENSP00000450823.1:p.Asn135Asp | |
| ENST00000555851.6:n.317A>G | ||
| ENST00000555900.5:c.1264A>G | ENSP00000451530.1:p.Asn422Asp | |
| ENST00000556000.5:c.1902A>G | ||
| ENST00000556945.5:c.1765A>G | ENSP00000450474.1:p.Asn589Asp | |
| ENST00000557491.1:n.1443A>G | ||
| ENST00000557607.5:c.1210A>G | ENSP00000452370.1:p.Asn404Asp | |
| NM_001160103.1:c.2155A>G | NP_001153575.1:p.Asn719Asp | |
| NM_001160104.1:c.2140A>G | NP_001153576.1:p.Asn714Asp | |
| NM_024824.4:c.2158A>G | NP_079100.2:p.Asn720Asp | |
| NM_207660.3:c.1687A>G | NP_997543.1:p.Asn563Asp | |
| NM_207661.2:c.1663A>G | NP_997544.1:p.Asn555Asp | |
| NM_207662.3:c.868A>G | NP_997545.2:p.Asn290Asp | |
| XM_005268067.3:c.2143A>G | XP_005268124.1:p.Asn715Asp | |
| XM_005268068.3:c.2083A>G | XP_005268125.1:p.Asn695Asp | |
| XM_005268069.3:c.1765A>G | XP_005268126.1:p.Asn589Asp | |
| XM_005268070.3:c.1762A>G | XP_005268127.1:p.Asn588Asp | |
| XM_005268071.3:c.1690A>G | XP_005268128.1:p.Asn564Asp | |
| XM_005268073.3:c.1264A>G | XP_005268130.1:p.Asn422Asp | |
| XM_006720257.2:c.1189A>G | XP_006720320.1:p.Asn397Asp | |
| XM_011537160.1:c.2056A>G | XP_011535462.1:p.Asn686Asp | |
| XM_011537161.1:c.2002A>G | XP_011535463.1:p.Asn668Asp | |
| NM_001326295.1:c.1765A>G | NP_001313224.1:p.Asn589Asp | |
| NM_001326296.1:c.2080A>G | NP_001313225.1:p.Asn694Asp | |
| NM_001326297.1:c.2056A>G | NP_001313226.1:p.Asn686Asp | |
| NM_001326298.1:c.1690A>G | NP_001313227.1:p.Asn564Asp | |
| NM_001326299.1:c.2065A>G | NP_001313228.1:p.Asn689Asp | |
| NM_001326300.1:c.1693A>G | NP_001313229.1:p.Asn565Asp | |
| NM_001326301.1:c.1981A>G | NP_001313230.1:p.Asn661Asp | |
| NM_001326302.1:c.1690A>G | NP_001313231.1:p.Asn564Asp | |
| NM_001326303.1:c.1585A>G | NP_001313232.1:p.Asn529Asp | |
| NM_001326304.1:c.1297A>G | NP_001313233.1:p.Asn433Asp | |
| NM_001326305.1:c.1618A>G | NP_001313234.1:p.Asn540Asp | |
| NM_001326306.1:c.1531A>G | NP_001313235.1:p.Asn511Asp | |
| NM_001326307.1:c.2083A>G | NP_001313236.1:p.Asn695Asp | |
| NM_001326308.1:c.1300A>G | NP_001313237.1:p.Asn434Asp | |
| NM_001326309.1:c.1225A>G | NP_001313238.1:p.Asn409Asp | |
| NM_001326310.1:c.2143A>G | NP_001313239.1:p.Asn715Asp | |
| NM_001326311.1:c.1222A>G | NP_001313240.1:p.Asn408Asp | |
| NM_001326312.1:c.2068A>G | NP_001313241.1:p.Asn690Asp | |
| NM_001326313.1:c.1534A>G | NP_001313242.1:p.Asn512Asp | |
| NM_001326314.1:c.1615A>G | NP_001313243.1:p.Asn539Asp | |
| NM_001326315.1:c.2053A>G | NP_001313244.1:p.Asn685Asp | |
| NM_001326316.1:c.2053A>G | NP_001313245.1:p.Asn685Asp | |
| NR_136936.1:n.2223A>G | ||
| XM_005268070.5:c.1762A>G | XP_005268127.1:p.Asn588Asp | |
| XM_005268073.4:c.1264A>G | XP_005268130.1:p.Asn422Asp | |
| XM_006720257.3:c.1189A>G | XP_006720320.1:p.Asn397Asp | |
| XM_011537161.3:c.2002A>G | XP_011535463.1:p.Asn668Asp | |
| XM_024449713.1:c.1186A>G | XP_024305481.1:p.Asn396Asp | |
| NM_024824.5:c.2158A>G MANE Select | NP_079100.2:p.Asn720Asp | |
| NM_001160103.2:c.2155A>G | NP_001153575.1:p.Asn719Asp | |
| NM_001160104.2:c.2140A>G | NP_001153576.1:p.Asn714Asp | |
| NM_001326295.2:c.1765A>G | NP_001313224.1:p.Asn589Asp | |
| NM_001326296.2:c.2080A>G | NP_001313225.1:p.Asn694Asp | |
| NM_001326297.2:c.2056A>G | NP_001313226.1:p.Asn686Asp | |
| NM_001326298.2:c.1690A>G | NP_001313227.1:p.Asn564Asp | |
| NM_001326299.2:c.2065A>G | NP_001313228.1:p.Asn689Asp | |
| NM_001326300.2:c.1693A>G | NP_001313229.1:p.Asn565Asp | |
| NM_001326301.2:c.1981A>G | NP_001313230.1:p.Asn661Asp | |
| NM_001326302.2:c.1690A>G | NP_001313231.1:p.Asn564Asp | |
| NM_001326303.2:c.1585A>G | NP_001313232.1:p.Asn529Asp | |
| NM_001326304.2:c.1297A>G | NP_001313233.1:p.Asn433Asp | |
| NM_001326305.2:c.1618A>G | NP_001313234.1:p.Asn540Asp | |
| NM_001326306.2:c.1531A>G | NP_001313235.1:p.Asn511Asp | |
| NM_001326307.2:c.2083A>G | NP_001313236.1:p.Asn695Asp | |
| NM_001326308.2:c.1300A>G | NP_001313237.1:p.Asn434Asp | |
| NM_001326309.2:c.1225A>G | NP_001313238.1:p.Asn409Asp | |
| NM_001326310.2:c.2143A>G | NP_001313239.1:p.Asn715Asp | |
| NM_001326311.2:c.1222A>G | NP_001313240.1:p.Asn408Asp | |
| NM_001326312.2:c.2068A>G | NP_001313241.1:p.Asn690Asp | |
| NM_001326313.2:c.1534A>G | NP_001313242.1:p.Asn512Asp | |
| NM_001326314.2:c.1615A>G | NP_001313243.1:p.Asn539Asp | |
| NM_001326315.2:c.2053A>G | NP_001313244.1:p.Asn685Asp | |
| NM_207660.4:c.1687A>G | NP_997543.1:p.Asn563Asp | |
| NM_207662.4:c.868A>G | NP_997545.2:p.Asn290Asp | |
| NR_136936.2:n.2095A>G | ||
| NM_001326316.2:c.2053A>G | NP_001313245.1:p.Asn685Asp | |
| NM_207661.3:c.1663A>G | NP_997544.1:p.Asn555Asp |