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.88610884T>A , CM000676.2:g.88610884T>A | GRCh38 |
| NC_000014.8:g.89077228T>A , CM000676.1:g.89077228T>A | GRCh37 |
| NC_000014.7:g.88146981T>A | NCBI36 |
| NG_050601.1:g.52976T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2148T>A MANE Select | ENSP00000251038.5:p.His716Gln | |
| ENST00000649731.1:c.*1356T>A | ENSP00000497757.1:n.*1356T>A | |
| ENST00000251038.9:c.2148T>A | ENSP00000251038.5:p.His716Gln | |
| ENST00000302216.12:c.1677T>A | ENSP00000307025.8:p.His559Gln | |
| ENST00000318308.10:c.858T>A | ENSP00000327176.6:p.His286Gln | |
| ENST00000336693.8:c.1653T>A | ENSP00000338002.4:p.His551Gln | |
| ENST00000393514.9:c.2073T>A | ENSP00000377150.5:p.His691Gln | |
| ENST00000406216.7:c.786T>A | ENSP00000384682.3:p.His262Gln | |
| ENST00000554020.5:n.991T>A | ||
| ENST00000555755.5:c.2130T>A | ENSP00000452475.1:p.His710Gln | |
| ENST00000555792.1:c.393T>A | ENSP00000450823.1:p.His131Gln | |
| ENST00000555851.6:n.307T>A | ||
| ENST00000555900.5:c.1254T>A | ENSP00000451530.1:p.His418Gln | |
| ENST00000556000.5:c.1892T>A | ||
| ENST00000556945.5:c.1755T>A | ENSP00000450474.1:p.His585Gln | |
| ENST00000557491.1:n.1433T>A | ||
| ENST00000557607.5:c.1200T>A | ENSP00000452370.1:p.His400Gln | |
| NM_001160103.1:c.2145T>A | NP_001153575.1:p.His715Gln | |
| NM_001160104.1:c.2130T>A | NP_001153576.1:p.His710Gln | |
| NM_024824.4:c.2148T>A | NP_079100.2:p.His716Gln | |
| NM_207660.3:c.1677T>A | NP_997543.1:p.His559Gln | |
| NM_207661.2:c.1653T>A | NP_997544.1:p.His551Gln | |
| NM_207662.3:c.858T>A | NP_997545.2:p.His286Gln | |
| XM_005268067.3:c.2133T>A | XP_005268124.1:p.His711Gln | |
| XM_005268068.3:c.2073T>A | XP_005268125.1:p.His691Gln | |
| XM_005268069.3:c.1755T>A | XP_005268126.1:p.His585Gln | |
| XM_005268070.3:c.1752T>A | XP_005268127.1:p.His584Gln | |
| XM_005268071.3:c.1680T>A | XP_005268128.1:p.His560Gln | |
| XM_005268073.3:c.1254T>A | XP_005268130.1:p.His418Gln | |
| XM_006720257.2:c.1179T>A | XP_006720320.1:p.His393Gln | |
| XM_011537160.1:c.2046T>A | XP_011535462.1:p.His682Gln | |
| XM_011537161.1:c.1992T>A | XP_011535463.1:p.His664Gln | |
| NM_001326295.1:c.1755T>A | NP_001313224.1:p.His585Gln | |
| NM_001326296.1:c.2070T>A | NP_001313225.1:p.His690Gln | |
| NM_001326297.1:c.2046T>A | NP_001313226.1:p.His682Gln | |
| NM_001326298.1:c.1680T>A | NP_001313227.1:p.His560Gln | |
| NM_001326299.1:c.2055T>A | NP_001313228.1:p.His685Gln | |
| NM_001326300.1:c.1683T>A | NP_001313229.1:p.His561Gln | |
| NM_001326301.1:c.1971T>A | NP_001313230.1:p.His657Gln | |
| NM_001326302.1:c.1680T>A | NP_001313231.1:p.His560Gln | |
| NM_001326303.1:c.1575T>A | NP_001313232.1:p.His525Gln | |
| NM_001326304.1:c.1287T>A | NP_001313233.1:p.His429Gln | |
| NM_001326305.1:c.1608T>A | NP_001313234.1:p.His536Gln | |
| NM_001326306.1:c.1521T>A | NP_001313235.1:p.His507Gln | |
| NM_001326307.1:c.2073T>A | NP_001313236.1:p.His691Gln | |
| NM_001326308.1:c.1290T>A | NP_001313237.1:p.His430Gln | |
| NM_001326309.1:c.1215T>A | NP_001313238.1:p.His405Gln | |
| NM_001326310.1:c.2133T>A | NP_001313239.1:p.His711Gln | |
| NM_001326311.1:c.1212T>A | NP_001313240.1:p.His404Gln | |
| NM_001326312.1:c.2058T>A | NP_001313241.1:p.His686Gln | |
| NM_001326313.1:c.1524T>A | NP_001313242.1:p.His508Gln | |
| NM_001326314.1:c.1605T>A | NP_001313243.1:p.His535Gln | |
| NM_001326315.1:c.2043T>A | NP_001313244.1:p.His681Gln | |
| NM_001326316.1:c.2043T>A | NP_001313245.1:p.His681Gln | |
| NR_136936.1:n.2213T>A | ||
| XM_005268070.5:c.1752T>A | XP_005268127.1:p.His584Gln | |
| XM_005268073.4:c.1254T>A | XP_005268130.1:p.His418Gln | |
| XM_006720257.3:c.1179T>A | XP_006720320.1:p.His393Gln | |
| XM_011537161.3:c.1992T>A | XP_011535463.1:p.His664Gln | |
| XM_024449713.1:c.1176T>A | XP_024305481.1:p.His392Gln | |
| NM_024824.5:c.2148T>A MANE Select | NP_079100.2:p.His716Gln | |
| NM_001160103.2:c.2145T>A | NP_001153575.1:p.His715Gln | |
| NM_001160104.2:c.2130T>A | NP_001153576.1:p.His710Gln | |
| NM_001326295.2:c.1755T>A | NP_001313224.1:p.His585Gln | |
| NM_001326296.2:c.2070T>A | NP_001313225.1:p.His690Gln | |
| NM_001326297.2:c.2046T>A | NP_001313226.1:p.His682Gln | |
| NM_001326298.2:c.1680T>A | NP_001313227.1:p.His560Gln | |
| NM_001326299.2:c.2055T>A | NP_001313228.1:p.His685Gln | |
| NM_001326300.2:c.1683T>A | NP_001313229.1:p.His561Gln | |
| NM_001326301.2:c.1971T>A | NP_001313230.1:p.His657Gln | |
| NM_001326302.2:c.1680T>A | NP_001313231.1:p.His560Gln | |
| NM_001326303.2:c.1575T>A | NP_001313232.1:p.His525Gln | |
| NM_001326304.2:c.1287T>A | NP_001313233.1:p.His429Gln | |
| NM_001326305.2:c.1608T>A | NP_001313234.1:p.His536Gln | |
| NM_001326306.2:c.1521T>A | NP_001313235.1:p.His507Gln | |
| NM_001326307.2:c.2073T>A | NP_001313236.1:p.His691Gln | |
| NM_001326308.2:c.1290T>A | NP_001313237.1:p.His430Gln | |
| NM_001326309.2:c.1215T>A | NP_001313238.1:p.His405Gln | |
| NM_001326310.2:c.2133T>A | NP_001313239.1:p.His711Gln | |
| NM_001326311.2:c.1212T>A | NP_001313240.1:p.His404Gln | |
| NM_001326312.2:c.2058T>A | NP_001313241.1:p.His686Gln | |
| NM_001326313.2:c.1524T>A | NP_001313242.1:p.His508Gln | |
| NM_001326314.2:c.1605T>A | NP_001313243.1:p.His535Gln | |
| NM_001326315.2:c.2043T>A | NP_001313244.1:p.His681Gln | |
| NM_207660.4:c.1677T>A | NP_997543.1:p.His559Gln | |
| NM_207662.4:c.858T>A | NP_997545.2:p.His286Gln | |
| NR_136936.2:n.2085T>A | ||
| NM_001326316.2:c.2043T>A | NP_001313245.1:p.His681Gln | |
| NM_207661.3:c.1653T>A | NP_997544.1:p.His551Gln |