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.88610907G>A , CM000676.2:g.88610907G>A | GRCh38 |
| NC_000014.8:g.89077251G>A , CM000676.1:g.89077251G>A | GRCh37 |
| NC_000014.7:g.88147004G>A | NCBI36 |
| NG_050601.1:g.52999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2171G>A MANE Select | ENSP00000251038.5:p.Arg724Gln | |
| ENST00000649731.1:c.*1379G>A | ENSP00000497757.1:n.*1379G>A | |
| ENST00000251038.9:c.2171G>A | ENSP00000251038.5:p.Arg724Gln | |
| ENST00000302216.12:c.1700G>A | ENSP00000307025.8:p.Arg567Gln | |
| ENST00000318308.10:c.881G>A | ENSP00000327176.6:p.Arg294Gln | |
| ENST00000336693.8:c.1676G>A | ENSP00000338002.4:p.Arg559Gln | |
| ENST00000393514.9:c.2096G>A | ENSP00000377150.5:p.Arg699Gln | |
| ENST00000406216.7:c.809G>A | ENSP00000384682.3:p.Arg270Gln | |
| ENST00000554020.5:n.1014G>A | ||
| ENST00000555755.5:c.2153G>A | ENSP00000452475.1:p.Arg718Gln | |
| ENST00000555792.1:c.416G>A | ENSP00000450823.1:p.Arg139Gln | |
| ENST00000555851.6:n.330G>A | ||
| ENST00000555900.5:c.1277G>A | ENSP00000451530.1:p.Arg426Gln | |
| ENST00000556000.5:c.1915G>A | ||
| ENST00000556945.5:c.1778G>A | ENSP00000450474.1:p.Arg593Gln | |
| ENST00000557491.1:n.1456G>A | ||
| ENST00000557607.5:c.1223G>A | ENSP00000452370.1:p.Arg408Gln | |
| NM_001160103.1:c.2168G>A | NP_001153575.1:p.Arg723Gln | |
| NM_001160104.1:c.2153G>A | NP_001153576.1:p.Arg718Gln | |
| NM_024824.4:c.2171G>A | NP_079100.2:p.Arg724Gln | |
| NM_207660.3:c.1700G>A | NP_997543.1:p.Arg567Gln | |
| NM_207661.2:c.1676G>A | NP_997544.1:p.Arg559Gln | |
| NM_207662.3:c.881G>A | NP_997545.2:p.Arg294Gln | |
| XM_005268067.3:c.2156G>A | XP_005268124.1:p.Arg719Gln | |
| XM_005268068.3:c.2096G>A | XP_005268125.1:p.Arg699Gln | |
| XM_005268069.3:c.1778G>A | XP_005268126.1:p.Arg593Gln | |
| XM_005268070.3:c.1775G>A | XP_005268127.1:p.Arg592Gln | |
| XM_005268071.3:c.1703G>A | XP_005268128.1:p.Arg568Gln | |
| XM_005268073.3:c.1277G>A | XP_005268130.1:p.Arg426Gln | |
| XM_006720257.2:c.1202G>A | XP_006720320.1:p.Arg401Gln | |
| XM_011537160.1:c.2069G>A | XP_011535462.1:p.Arg690Gln | |
| XM_011537161.1:c.2015G>A | XP_011535463.1:p.Arg672Gln | |
| NM_001326295.1:c.1778G>A | NP_001313224.1:p.Arg593Gln | |
| NM_001326296.1:c.2093G>A | NP_001313225.1:p.Arg698Gln | |
| NM_001326297.1:c.2069G>A | NP_001313226.1:p.Arg690Gln | |
| NM_001326298.1:c.1703G>A | NP_001313227.1:p.Arg568Gln | |
| NM_001326299.1:c.2078G>A | NP_001313228.1:p.Arg693Gln | |
| NM_001326300.1:c.1706G>A | NP_001313229.1:p.Arg569Gln | |
| NM_001326301.1:c.1994G>A | NP_001313230.1:p.Arg665Gln | |
| NM_001326302.1:c.1703G>A | NP_001313231.1:p.Arg568Gln | |
| NM_001326303.1:c.1598G>A | NP_001313232.1:p.Arg533Gln | |
| NM_001326304.1:c.1310G>A | NP_001313233.1:p.Arg437Gln | |
| NM_001326305.1:c.1631G>A | NP_001313234.1:p.Arg544Gln | |
| NM_001326306.1:c.1544G>A | NP_001313235.1:p.Arg515Gln | |
| NM_001326307.1:c.2096G>A | NP_001313236.1:p.Arg699Gln | |
| NM_001326308.1:c.1313G>A | NP_001313237.1:p.Arg438Gln | |
| NM_001326309.1:c.1238G>A | NP_001313238.1:p.Arg413Gln | |
| NM_001326310.1:c.2156G>A | NP_001313239.1:p.Arg719Gln | |
| NM_001326311.1:c.1235G>A | NP_001313240.1:p.Arg412Gln | |
| NM_001326312.1:c.2081G>A | NP_001313241.1:p.Arg694Gln | |
| NM_001326313.1:c.1547G>A | NP_001313242.1:p.Arg516Gln | |
| NM_001326314.1:c.1628G>A | NP_001313243.1:p.Arg543Gln | |
| NM_001326315.1:c.2066G>A | NP_001313244.1:p.Arg689Gln | |
| NM_001326316.1:c.2066G>A | NP_001313245.1:p.Arg689Gln | |
| NR_136936.1:n.2236G>A | ||
| XM_005268070.5:c.1775G>A | XP_005268127.1:p.Arg592Gln | |
| XM_005268073.4:c.1277G>A | XP_005268130.1:p.Arg426Gln | |
| XM_006720257.3:c.1202G>A | XP_006720320.1:p.Arg401Gln | |
| XM_011537161.3:c.2015G>A | XP_011535463.1:p.Arg672Gln | |
| XM_024449713.1:c.1199G>A | XP_024305481.1:p.Arg400Gln | |
| NM_024824.5:c.2171G>A MANE Select | NP_079100.2:p.Arg724Gln | |
| NM_001160103.2:c.2168G>A | NP_001153575.1:p.Arg723Gln | |
| NM_001160104.2:c.2153G>A | NP_001153576.1:p.Arg718Gln | |
| NM_001326295.2:c.1778G>A | NP_001313224.1:p.Arg593Gln | |
| NM_001326296.2:c.2093G>A | NP_001313225.1:p.Arg698Gln | |
| NM_001326297.2:c.2069G>A | NP_001313226.1:p.Arg690Gln | |
| NM_001326298.2:c.1703G>A | NP_001313227.1:p.Arg568Gln | |
| NM_001326299.2:c.2078G>A | NP_001313228.1:p.Arg693Gln | |
| NM_001326300.2:c.1706G>A | NP_001313229.1:p.Arg569Gln | |
| NM_001326301.2:c.1994G>A | NP_001313230.1:p.Arg665Gln | |
| NM_001326302.2:c.1703G>A | NP_001313231.1:p.Arg568Gln | |
| NM_001326303.2:c.1598G>A | NP_001313232.1:p.Arg533Gln | |
| NM_001326304.2:c.1310G>A | NP_001313233.1:p.Arg437Gln | |
| NM_001326305.2:c.1631G>A | NP_001313234.1:p.Arg544Gln | |
| NM_001326306.2:c.1544G>A | NP_001313235.1:p.Arg515Gln | |
| NM_001326307.2:c.2096G>A | NP_001313236.1:p.Arg699Gln | |
| NM_001326308.2:c.1313G>A | NP_001313237.1:p.Arg438Gln | |
| NM_001326309.2:c.1238G>A | NP_001313238.1:p.Arg413Gln | |
| NM_001326310.2:c.2156G>A | NP_001313239.1:p.Arg719Gln | |
| NM_001326311.2:c.1235G>A | NP_001313240.1:p.Arg412Gln | |
| NM_001326312.2:c.2081G>A | NP_001313241.1:p.Arg694Gln | |
| NM_001326313.2:c.1547G>A | NP_001313242.1:p.Arg516Gln | |
| NM_001326314.2:c.1628G>A | NP_001313243.1:p.Arg543Gln | |
| NM_001326315.2:c.2066G>A | NP_001313244.1:p.Arg689Gln | |
| NM_207660.4:c.1700G>A | NP_997543.1:p.Arg567Gln | |
| NM_207662.4:c.881G>A | NP_997545.2:p.Arg294Gln | |
| NR_136936.2:n.2108G>A | ||
| NM_001326316.2:c.2066G>A | NP_001313245.1:p.Arg689Gln | |
| NM_207661.3:c.1676G>A | NP_997544.1:p.Arg559Gln |