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
ClinVar Variation Id:
378717
dbSNP Id:
rs140078086
gnomAD v2:
18-52896091-C-T
gnomAD v3:
18-55228860-C-T
gnomAD v4:
18-55228860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.55228860C>T , CM000680.2:g.55228860C>T | GRCh38 |
| NC_000018.9:g.52896091C>T , CM000680.1:g.52896091C>T | GRCh37 |
| NC_000018.8:g.51047089C>T | NCBI36 |
| NG_011716.1:g.364770G>A | |
| NG_011716.2:g.412134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354452.8:c.1866G>A MANE Select | ENSP00000346440.3:p.Glu622= | |
| ENST00000635822.2:c.1746G>A | ENSP00000490451.1:p.Glu582= | |
| ENST00000635990.2:n.1546G>A | ||
| ENST00000636400.2:c.1794G>A | ENSP00000490006.1:p.Glu598= | |
| ENST00000636751.2:c.*1574G>A | ENSP00000489783.1:n.*1574G>A | |
| ENST00000636822.2:c.1476G>A | ENSP00000490883.1:p.Glu492= | |
| ENST00000637115.2:c.*1744G>A | ENSP00000490234.1:n.*1744G>A | |
| ENST00000637169.2:c.1218G>A | ENSP00000490832.1:p.Glu406= | |
| ENST00000637239.2:n.1921G>A | ||
| ENST00000637250.2:n.1560G>A | ||
| ENST00000637923.2:c.1464G>A | ||
| ENST00000638154.3:c.1893G>A | ENSP00000490625.2:p.Glu631= | |
| ENST00000643689.1:c.1476G>A | ENSP00000494380.1:p.Glu492= | |
| ENST00000674764.1:c.*1477G>A | ENSP00000502213.1:n.*1477G>A | |
| ENST00000675707.1:c.1476G>A | ENSP00000501758.1:p.Glu492= | |
| ENST00000354452.7:c.1866G>A | ENSP00000346440.3:p.Glu622= | |
| ENST00000356073.8:c.1854G>A | ENSP00000348374.4:p.Glu618= | |
| ENST00000398339.5:c.2172G>A | ENSP00000381382.1:p.Glu724= | |
| ENST00000457482.7:c.1386G>A | ENSP00000409447.2:p.Glu462= | |
| ENST00000537578.5:c.1794G>A | ENSP00000440731.1:p.Glu598= | |
| ENST00000537856.7:c.1464G>A | ENSP00000439827.2:p.Glu488= | |
| ENST00000540999.5:c.1782G>A | ENSP00000445202.1:p.Glu594= | |
| ENST00000543082.5:c.1728G>A | ENSP00000439656.1:p.Glu576= | |
| ENST00000544241.6:c.1653G>A | ENSP00000441562.2:p.Glu551= | |
| ENST00000561831.7:c.1374G>A | ENSP00000457765.1:p.Glu458= | |
| ENST00000561992.5:c.1464G>A | ENSP00000455179.1:p.Glu488= | |
| ENST00000562680.5:n.5389G>A | ||
| ENST00000564228.5:c.1641G>A | ENSP00000455261.1:p.Glu547= | |
| ENST00000564403.6:c.1884G>A | ENSP00000457263.1:p.Glu628= | |
| ENST00000564999.5:c.1854G>A | ENSP00000457649.1:p.Glu618= | |
| ENST00000565018.6:c.1602G>A | ENSP00000455984.2:p.Glu534= | |
| ENST00000566279.5:c.1686G>A | ENSP00000456125.1:p.Glu562= | |
| ENST00000566286.5:c.1845G>A | ENSP00000455418.2:p.Glu615= | |
| ENST00000567880.5:c.1674G>A | ENSP00000454366.1:p.Glu558= | |
| ENST00000568673.5:c.1794G>A | ENSP00000455135.1:p.Glu598= | |
| ENST00000568740.5:c.1779G>A | ENSP00000455346.1:p.Glu593= | |
| ENST00000570177.6:c.1464G>A | ENSP00000454647.1:p.Glu488= | |
| ENST00000570287.6:c.1374G>A | ENSP00000455763.1:p.Glu458= | |
| ENST00000616053.4:c.1602G>A | ENSP00000478549.1:p.Glu534= | |
| ENST00000626466.1:n.889G>A | ||
| ENST00000626584.2:c.1206G>A | ENSP00000486072.1:p.Glu402= | |
| ENST00000626631.1:c.96G>A | ENSP00000487505.1:p.Glu32= | |
| ENST00000629387.2:c.1866G>A | ENSP00000486670.1:p.Glu622= | |
| NM_001083962.1:c.1866G>A | NP_001077431.1:p.Glu622= | |
| NM_001243226.2:c.2172G>A | NP_001230155.2:p.Glu724= | |
| NM_001243227.1:c.1794G>A | NP_001230156.1:p.Glu598= | |
| NM_001243228.1:c.1884G>A | NP_001230157.1:p.Glu628= | |
| NM_001243230.1:c.1845G>A | NP_001230159.1:p.Glu615= | |
| NM_001243231.1:c.1728G>A | NP_001230160.1:p.Glu576= | |
| NM_001243232.1:c.1653G>A | NP_001230161.1:p.Glu551= | |
| NM_001243233.1:c.1464G>A | NP_001230162.1:p.Glu488= | |
| NM_001243234.1:c.1386G>A | NP_001230163.1:p.Glu462= | |
| NM_001243235.1:c.1374G>A | NP_001230164.1:p.Glu458= | |
| NM_001243236.1:c.1374G>A | NP_001230165.1:p.Glu458= | |
| NM_001306207.1:c.1782G>A | NP_001293136.1:p.Glu594= | |
| NM_001306208.1:c.1641G>A | NP_001293137.1:p.Glu547= | |
| NM_003199.2:c.1854G>A | NP_003190.1:p.Glu618= | |
| XM_005266739.3:c.1794G>A | XP_005266796.2:p.Glu598= | |
| XM_005266741.3:c.1863G>A | XP_005266798.1:p.Glu621= | |
| XM_005266743.3:c.1794G>A | XP_005266800.1:p.Glu598= | |
| XM_005266744.3:c.1794G>A | XP_005266801.1:p.Glu598= | |
| XM_005266745.3:c.1791G>A | XP_005266802.1:p.Glu597= | |
| XM_005266747.3:c.1740G>A | XP_005266804.1:p.Glu580= | |
| XM_005266749.3:c.1656G>A | XP_005266806.1:p.Glu552= | |
| XM_005266752.3:c.1476G>A | XP_005266809.1:p.Glu492= | |
| XM_005266754.3:c.1476G>A | XP_005266811.1:p.Glu492= | |
| XM_005266755.3:c.1476G>A | XP_005266812.1:p.Glu492= | |
| XM_005266761.3:c.1383G>A | XP_005266818.1:p.Glu461= | |
| XM_006722536.2:c.1866G>A | XP_006722599.1:p.Glu622= | |
| XM_006722537.2:c.1866G>A | XP_006722600.1:p.Glu622= | |
| XM_006722538.2:c.1791G>A | XP_006722601.1:p.Glu597= | |
| XM_006722539.2:c.1476G>A | XP_006722602.1:p.Glu492= | |
| XM_006722540.2:c.1464G>A | XP_006722603.1:p.Glu488= | |
| XM_011526154.1:c.2169G>A | XP_011524456.1:p.Glu723= | |
| XM_011526155.1:c.2169G>A | XP_011524457.1:p.Glu723= | |
| XM_011526156.1:c.2160G>A | XP_011524458.1:p.Glu720= | |
| XM_011526157.1:c.2157G>A | XP_011524459.1:p.Glu719= | |
| XM_011526158.1:c.1860G>A | XP_011524460.1:p.Glu620= | |
| XM_011526159.1:c.1476G>A | XP_011524461.1:p.Glu492= | |
| XM_011526160.1:c.1476G>A | XP_011524462.1:p.Glu492= | |
| XM_011526161.1:c.1476G>A | XP_011524463.1:p.Glu492= | |
| XM_011526162.1:c.1476G>A | XP_011524464.1:p.Glu492= | |
| XM_011526163.1:c.1476G>A | XP_011524465.1:p.Glu492= | |
| XM_011526164.1:c.1464G>A | XP_011524466.1:p.Glu488= | |
| NM_001330604.2:c.1863G>A | NP_001317533.1:p.Glu621= | |
| NM_001330605.2:c.1476G>A | NP_001317534.1:p.Glu492= | |
| NM_001348211.1:c.1740G>A | NP_001335140.1:p.Glu580= | |
| NM_001348212.1:c.1464G>A | NP_001335141.1:p.Glu488= | |
| NM_001348213.1:c.1476G>A | NP_001335142.1:p.Glu492= | |
| NM_001348214.1:c.1371G>A | NP_001335143.1:p.Glu457= | |
| NM_001348215.1:c.1218G>A | NP_001335144.1:p.Glu406= | |
| NM_001348216.1:c.1386G>A | NP_001335145.1:p.Glu462= | |
| NM_001348217.1:c.1794G>A | NP_001335146.1:p.Glu598= | |
| NM_001348218.1:c.1794G>A | NP_001335147.1:p.Glu598= | |
| NM_001348219.1:c.1782G>A | NP_001335148.1:p.Glu594= | |
| NM_001348220.1:c.1779G>A | NP_001335149.1:p.Glu593= | |
| XM_005266739.4:c.1794G>A | XP_005266796.2:p.Glu598= | |
| XM_005266741.4:c.1863G>A | XP_005266798.1:p.Glu621= | |
| XM_005266745.4:c.1791G>A | XP_005266802.1:p.Glu597= | |
| XM_005266749.4:c.1656G>A | XP_005266806.1:p.Glu552= | |
| XM_005266752.5:c.1476G>A | XP_005266809.1:p.Glu492= | |
| XM_005266755.5:c.1476G>A | XP_005266812.1:p.Glu492= | |
| XM_005266761.4:c.1383G>A | XP_005266818.1:p.Glu461= | |
| XM_006722536.3:c.1866G>A | XP_006722599.1:p.Glu622= | |
| XM_006722537.3:c.1866G>A | XP_006722600.1:p.Glu622= | |
| XM_006722538.3:c.1791G>A | XP_006722601.1:p.Glu597= | |
| XM_017025934.2:c.1791G>A | XP_016881423.1:p.Glu597= | |
| XM_017025935.2:c.1791G>A | XP_016881424.1:p.Glu597= | |
| XM_017025936.2:c.1782G>A | XP_016881425.1:p.Glu594= | |
| XM_017025937.2:c.1779G>A | XP_016881426.1:p.Glu593= | |
| XM_017025938.2:c.1863G>A | XP_016881427.1:p.Glu621= | |
| XM_017025940.2:c.1854G>A | XP_016881429.1:p.Glu618= | |
| XM_017025941.2:c.1854G>A | XP_016881430.1:p.Glu618= | |
| XM_017025942.2:c.1851G>A | XP_016881431.1:p.Glu617= | |
| XM_017025943.2:c.1851G>A | XP_016881432.1:p.Glu617= | |
| XM_017025944.2:c.1791G>A | XP_016881433.1:p.Glu597= | |
| XM_017025945.2:c.1791G>A | XP_016881434.1:p.Glu597= | |
| XM_017025946.2:c.1782G>A | XP_016881435.1:p.Glu594= | |
| XM_017025948.2:c.1779G>A | XP_016881437.1:p.Glu593= | |
| XM_017025950.2:c.1776G>A | XP_016881439.1:p.Glu592= | |
| XM_017025951.2:c.1737G>A | XP_016881440.1:p.Glu579= | |
| XM_017025952.2:c.1650G>A | XP_016881441.1:p.Glu550= | |
| XM_017025953.2:c.1644G>A | XP_016881442.1:p.Glu548= | |
| XM_017025954.2:c.1473G>A | XP_016881443.1:p.Glu491= | |
| XM_017025956.2:c.1464G>A | XP_016881445.1:p.Glu488= | |
| XM_024451240.1:c.1791G>A | XP_024307008.1:p.Glu597= | |
| XM_024451241.1:c.1629G>A | XP_024307009.1:p.Glu543= | |
| NM_001083962.2:c.1866G>A MANE Select | NP_001077431.1:p.Glu622= | |
| NM_001243226.3:c.2172G>A | NP_001230155.2:p.Glu724= | |
| NM_001243227.2:c.1794G>A | NP_001230156.1:p.Glu598= | |
| NM_001243228.2:c.1884G>A | NP_001230157.1:p.Glu628= | |
| NM_001243231.2:c.1728G>A | NP_001230160.1:p.Glu576= | |
| NM_001243233.2:c.1464G>A | NP_001230162.1:p.Glu488= | |
| NM_001243234.2:c.1386G>A | NP_001230163.1:p.Glu462= | |
| NM_001243235.2:c.1374G>A | NP_001230164.1:p.Glu458= | |
| NM_001243236.2:c.1374G>A | NP_001230165.1:p.Glu458= | |
| NM_001330604.3:c.1863G>A | NP_001317533.1:p.Glu621= | |
| NM_001330605.3:c.1476G>A | NP_001317534.1:p.Glu492= | |
| NM_001348211.2:c.1740G>A | NP_001335140.1:p.Glu580= | |
| NM_001348212.2:c.1464G>A | NP_001335141.1:p.Glu488= | |
| NM_001348213.2:c.1476G>A | NP_001335142.1:p.Glu492= | |
| NM_001348214.2:c.1371G>A | NP_001335143.1:p.Glu457= | |
| NM_001348215.2:c.1218G>A | NP_001335144.1:p.Glu406= | |
| NM_001348216.2:c.1386G>A | NP_001335145.1:p.Glu462= | |
| NM_001348218.2:c.1794G>A | NP_001335147.1:p.Glu598= | |
| NM_001348219.2:c.1782G>A | NP_001335148.1:p.Glu594= | |
| NM_001369567.1:c.1866G>A | NP_001356496.1:p.Glu622= | |
| NM_001369568.1:c.1866G>A | NP_001356497.1:p.Glu622= | |
| NM_001369569.1:c.1863G>A | NP_001356498.1:p.Glu621= | |
| NM_001369570.1:c.1863G>A | NP_001356499.1:p.Glu621= | |
| NM_001369571.1:c.1854G>A | NP_001356500.1:p.Glu618= | |
| NM_001369572.1:c.1854G>A | NP_001356501.1:p.Glu618= | |
| NM_001369573.1:c.1851G>A | NP_001356502.1:p.Glu617= | |
| NM_001369574.1:c.1851G>A | NP_001356503.1:p.Glu617= | |
| NM_001369575.1:c.1794G>A | NP_001356504.1:p.Glu598= | |
| NM_001369576.1:c.1791G>A | NP_001356505.1:p.Glu597= | |
| NM_001369577.1:c.1791G>A | NP_001356506.1:p.Glu597= | |
| NM_001369578.1:c.1791G>A | NP_001356507.1:p.Glu597= | |
| NM_001369579.1:c.1791G>A | NP_001356508.1:p.Glu597= | |
| NM_001369580.1:c.1791G>A | NP_001356509.1:p.Glu597= | |
| NM_001369581.1:c.1791G>A | NP_001356510.1:p.Glu597= | |
| NM_001369582.1:c.1782G>A | NP_001356511.1:p.Glu594= | |
| NM_001369583.1:c.1782G>A | NP_001356512.1:p.Glu594= | |
| NM_001369584.1:c.1779G>A | NP_001356513.1:p.Glu593= | |
| NM_001369585.1:c.1779G>A | NP_001356514.1:p.Glu593= | |
| NM_001369586.1:c.1797G>A | NP_001356515.1:p.Glu599= | |
| NM_003199.3:c.1854G>A | NP_003190.1:p.Glu618= | |
| NM_001243230.2:c.1845G>A | NP_001230159.1:p.Glu615= |