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
MyVariant Identifiers:
chr6:g.86217005C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85507287C>T , CM000668.2:g.85507287C>T | GRCh38 |
| NC_000006.11:g.86217005C>T , CM000668.1:g.86217005C>T | GRCh37 |
| NC_000006.10:g.86273724C>T | NCBI36 |
| NG_047171.1:g.91870G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418862.2:c.876G>A | ENSP00000391981.2:p.Leu292= | |
| ENST00000508658.6:c.2748G>A | ENSP00000422814.2:p.Leu916= | |
| ENST00000509338.6:c.1869G>A | ENSP00000424302.2:p.Leu623= | |
| ENST00000514801.2:n.1965G>A | ||
| ENST00000515216.6:c.2746-31G>A | ENSP00000425630.2:n.2746-31G>A | |
| ENST00000681965.1:c.3886G>A | ENSP00000507317.1:n.3886G>A | |
| ENST00000681981.1:c.2664G>A | ENSP00000507672.1:p.Leu888= | |
| ENST00000682022.1:c.*2640G>A | ENSP00000508118.1:n.*2640G>A | |
| ENST00000682023.1:c.*2371G>A | ENSP00000507998.1:n.*2371G>A | |
| ENST00000682034.1:c.*1915G>A | ENSP00000506724.1:n.*1915G>A | |
| ENST00000682057.1:c.*2177G>A | ENSP00000507883.1:n.*2177G>A | |
| ENST00000682083.1:c.*2658G>A | ENSP00000506859.1:n.*2658G>A | |
| ENST00000682106.1:n.5262G>A | ||
| ENST00000682133.1:c.*311G>A | ENSP00000507001.1:n.*311G>A | |
| ENST00000682171.1:c.2589G>A | ENSP00000508327.1:p.Leu863= | |
| ENST00000682174.1:c.*2371G>A | ENSP00000507248.1:n.*2371G>A | |
| ENST00000682374.1:c.*1294G>A | ENSP00000507425.1:n.*1294G>A | |
| ENST00000682412.1:c.2588G>A | ENSP00000507297.1:n.2588G>A | |
| ENST00000682454.1:c.*2111G>A | ENSP00000507851.1:n.*2111G>A | |
| ENST00000682455.1:c.*3726G>A | ENSP00000507586.1:n.*3726G>A | |
| ENST00000682464.1:c.*311G>A | ENSP00000507625.1:n.*311G>A | |
| ENST00000682491.1:c.2460G>A | ENSP00000506970.1:p.Leu820= | |
| ENST00000682497.1:c.2745G>A | ENSP00000507869.1:p.Leu915= | |
| ENST00000682504.1:c.*2654G>A | ENSP00000507623.1:n.*2654G>A | |
| ENST00000682514.1:n.8535G>A | ||
| ENST00000682594.1:n.3364G>A | ||
| ENST00000682633.1:c.*311G>A | ENSP00000507843.1:n.*311G>A | |
| ENST00000682660.1:c.2487G>A | ENSP00000507539.1:p.Leu829= | |
| ENST00000682682.1:c.2583G>A | ENSP00000507777.1:p.Leu861= | |
| ENST00000682688.1:c.*1753G>A | ENSP00000507097.1:n.*1753G>A | |
| ENST00000682694.1:c.*2111G>A | ENSP00000507387.1:n.*2111G>A | |
| ENST00000682709.1:n.8667G>A | ||
| ENST00000682738.1:c.2556G>A | ENSP00000507742.1:p.Leu852= | |
| ENST00000682776.1:c.*1499G>A | ENSP00000507490.1:n.*1499G>A | |
| ENST00000682854.1:c.*2736G>A | ENSP00000507257.1:n.*2736G>A | |
| ENST00000682878.1:c.*2436G>A | ENSP00000507360.1:n.*2436G>A | |
| ENST00000682926.1:n.2155G>A | ||
| ENST00000682939.1:c.2460G>A | ENSP00000506902.1:p.Leu820= | |
| ENST00000682991.1:c.2529G>A | ENSP00000508193.1:p.Leu843= | |
| ENST00000682995.1:c.*1472G>A | ENSP00000506807.1:n.*1472G>A | |
| ENST00000683073.1:c.*866G>A | ENSP00000507270.1:n.*866G>A | |
| ENST00000683074.1:c.*2658G>A | ENSP00000507008.1:n.*2658G>A | |
| ENST00000683085.1:c.*823G>A | ENSP00000507993.1:n.*823G>A | |
| ENST00000683097.1:c.*1118G>A | ENSP00000507556.1:n.*1118G>A | |
| ENST00000683126.1:c.*2268G>A | ENSP00000507507.1:n.*2268G>A | |
| ENST00000683195.1:c.*2111G>A | ENSP00000508190.1:n.*2111G>A | |
| ENST00000683196.1:c.*2111G>A | ENSP00000508297.1:n.*2111G>A | |
| ENST00000683364.1:c.*2618G>A | ENSP00000507791.1:n.*2618G>A | |
| ENST00000683436.1:c.*1779G>A | ENSP00000506874.1:n.*1779G>A | |
| ENST00000683458.1:c.*1499G>A | ENSP00000508204.1:n.*1499G>A | |
| ENST00000683473.1:n.3859G>A | ||
| ENST00000683479.1:c.2748G>A | ENSP00000507368.1:p.Leu916= | |
| ENST00000683481.1:c.*1630G>A | ENSP00000507015.1:n.*1630G>A | |
| ENST00000683541.1:c.2745G>A | ENSP00000507116.1:p.Leu915= | |
| ENST00000683542.1:c.*2272G>A | ENSP00000506893.1:n.*2272G>A | |
| ENST00000683577.1:c.*311G>A | ENSP00000507516.1:n.*311G>A | |
| ENST00000683583.1:c.*5162G>A | ENSP00000507244.1:n.*5162G>A | |
| ENST00000683643.1:c.2616G>A | ENSP00000507444.1:p.Leu872= | |
| ENST00000683698.1:c.*2264G>A | ENSP00000507000.1:n.*2264G>A | |
| ENST00000683726.1:c.*2268G>A | ENSP00000507744.1:n.*2268G>A | |
| ENST00000683754.1:c.2667G>A | ENSP00000507707.1:p.Leu889= | |
| ENST00000683763.1:n.1446G>A | ||
| ENST00000683785.1:c.2613G>A | ENSP00000507188.1:p.Leu871= | |
| ENST00000683803.1:c.*1499G>A | ENSP00000508216.1:n.*1499G>A | |
| ENST00000683857.1:c.*2177G>A | ENSP00000508015.1:n.*2177G>A | |
| ENST00000683873.1:c.*2323G>A | ENSP00000506829.1:n.*2323G>A | |
| ENST00000683878.1:c.*2029G>A | ENSP00000507449.1:n.*2029G>A | |
| ENST00000683880.1:c.*2272G>A | ENSP00000508357.1:n.*2272G>A | |
| ENST00000683898.1:c.2583G>A | ENSP00000506897.1:p.Leu861= | |
| ENST00000683909.1:n.4778G>A | ||
| ENST00000684017.1:n.8260G>A | ||
| ENST00000684108.1:n.8667G>A | ||
| ENST00000684118.1:c.2743-31G>A | ENSP00000507950.1:n.2743-31G>A | |
| ENST00000684150.1:c.2589G>A | ENSP00000507401.1:p.Leu863= | |
| ENST00000684220.1:c.*2618G>A | ENSP00000507382.1:n.*2618G>A | |
| ENST00000684239.1:c.*2373G>A | ENSP00000507479.1:n.*2373G>A | |
| ENST00000684273.1:c.*2241G>A | ENSP00000508063.1:n.*2241G>A | |
| ENST00000684281.1:c.2397G>A | ENSP00000507932.1:p.Leu799= | |
| ENST00000684299.1:c.*311G>A | ENSP00000507637.1:n.*311G>A | |
| ENST00000684319.1:c.*311G>A | ENSP00000508346.1:n.*311G>A | |
| ENST00000684422.1:c.*2421G>A | ENSP00000507146.1:n.*2421G>A | |
| ENST00000684451.1:c.*2053G>A | ENSP00000507384.1:n.*2053G>A | |
| ENST00000684570.1:c.2811G>A | ENSP00000508127.1:p.Leu937= | |
| ENST00000684581.1:c.*569G>A | ENSP00000507294.1:n.*569G>A | |
| ENST00000684647.1:c.2457G>A | ENSP00000506873.1:p.Leu819= | |
| ENST00000684680.1:c.2373G>A | ENSP00000507491.1:p.Leu791= | |
| ENST00000684717.1:c.2865G>A | ENSP00000507024.1:p.Leu955= | |
| ENST00000314673.8:c.2748G>A MANE Select | ENSP00000313121.3:p.Leu916= | |
| ENST00000314673.7:c.2748G>A | ENSP00000313121.3:p.Leu916= | |
| ENST00000346348.7:c.2589G>A | ENSP00000257769.3:p.Leu863= | |
| ENST00000369627.6:c.2721G>A | ENSP00000358641.2:p.Leu907= | |
| ENST00000474645.6:n.493G>A | ||
| ENST00000503491.5:n.3237G>A | ||
| ENST00000505648.5:c.2592G>A | ENSP00000427380.1:p.Leu864= | |
| ENST00000508658.5:c.464G>A | ||
| ENST00000508980.5:n.3354G>A | ||
| ENST00000513865.5:c.1905G>A | ENSP00000420938.1:p.Leu635= | |
| NM_001297614.2:c.2721G>A | NP_001284543.1:p.Leu907= | |
| NM_001304479.1:c.2592G>A | NP_001291408.1:p.Leu864= | |
| NM_020468.5:c.2589G>A | NP_065201.1:p.Leu863= | |
| NM_153816.5:c.2748G>A | NP_722523.1:p.Leu916= | |
| XM_005248738.3:c.2745G>A | XP_005248795.1:p.Leu915= | |
| XM_005248740.3:c.2616G>A | XP_005248797.1:p.Leu872= | |
| XM_011535978.1:c.2529G>A | XP_011534280.1:p.Leu843= | |
| XM_011535979.1:c.2460G>A | XP_011534281.1:p.Leu820= | |
| XM_011535980.1:c.1593G>A | XP_011534282.1:p.Leu531= | |
| XR_942523.1:n.2856G>A | ||
| NM_001350532.1:c.2811G>A | NP_001337461.1:p.Leu937= | |
| NM_001350533.1:c.2745G>A | NP_001337462.1:p.Leu915= | |
| NM_001350534.1:c.2718G>A | NP_001337463.1:p.Leu906= | |
| NM_001350535.1:c.2743-31G>A | NP_001337464.1:n.2743-31G>A | |
| NM_001350536.1:c.2616G>A | NP_001337465.1:p.Leu872= | |
| NM_001350537.1:c.2613G>A | NP_001337466.1:p.Leu871= | |
| NM_001350538.1:c.2604G>A | NP_001337467.1:p.Leu868= | |
| NM_001350539.1:c.2589G>A | NP_001337468.1:p.Leu863= | |
| NM_001350540.1:c.2583G>A | NP_001337469.1:p.Leu861= | |
| NM_001350541.1:c.2556G>A | NP_001337470.1:p.Leu852= | |
| NM_001350542.1:c.2460G>A | NP_001337471.1:p.Leu820= | |
| NM_001350543.1:c.2457G>A | NP_001337472.1:p.Leu819= | |
| NM_001350544.1:c.2448G>A | NP_001337473.1:p.Leu816= | |
| NM_001350545.1:c.2304G>A | NP_001337474.1:p.Leu768= | |
| NM_001350546.1:c.2304G>A | NP_001337475.1:p.Leu768= | |
| NM_001350547.1:c.1698G>A | NP_001337476.1:p.Leu566= | |
| NM_001350548.1:c.1593G>A | NP_001337477.1:p.Leu531= | |
| NM_001350549.1:c.1593G>A | NP_001337478.1:p.Leu531= | |
| NM_001350550.1:c.1593G>A | NP_001337479.1:p.Leu531= | |
| NM_001350551.1:c.1593G>A | NP_001337480.1:p.Leu531= | |
| NM_001350552.1:c.1593G>A | NP_001337481.1:p.Leu531= | |
| NM_001350553.1:c.1566G>A | NP_001337482.1:p.Leu522= | |
| NR_146774.1:n.3182G>A | ||
| NR_146775.1:n.3185G>A | ||
| NR_146776.1:n.3308G>A | ||
| NR_146777.1:n.3436G>A | ||
| NR_146778.1:n.3440G>A | ||
| NR_146779.1:n.3437G>A | ||
| XM_017011090.1:c.2589G>A | XP_016866579.1:p.Leu863= | |
| XM_024446498.1:c.2457G>A | XP_024302266.1:p.Leu819= | |
| XM_024446499.1:c.1593G>A | XP_024302267.1:p.Leu531= | |
| NM_153816.6:c.2748G>A MANE Select | NP_722523.1:p.Leu916= | |
| NM_001297614.3:c.2721G>A | NP_001284543.1:p.Leu907= | |
| NM_001304479.2:c.2592G>A | NP_001291408.1:p.Leu864= | |
| NM_001350532.2:c.2811G>A | NP_001337461.1:p.Leu937= | |
| NM_001350533.2:c.2745G>A | NP_001337462.1:p.Leu915= | |
| NM_001350534.2:c.2718G>A | NP_001337463.1:p.Leu906= | |
| NM_001350535.2:c.2743-31G>A | NP_001337464.1:n.2743-31G>A | |
| NM_001350536.2:c.2616G>A | NP_001337465.1:p.Leu872= | |
| NM_001350537.2:c.2613G>A | NP_001337466.1:p.Leu871= | |
| NM_001350538.2:c.2604G>A | NP_001337467.1:p.Leu868= | |
| NM_001350539.2:c.2589G>A | NP_001337468.1:p.Leu863= | |
| NM_001350540.2:c.2583G>A | NP_001337469.1:p.Leu861= | |
| NM_001350541.2:c.2556G>A | NP_001337470.1:p.Leu852= | |
| NM_001350542.2:c.2460G>A | NP_001337471.1:p.Leu820= | |
| NM_001350543.2:c.2457G>A | NP_001337472.1:p.Leu819= | |
| NM_001350544.2:c.2448G>A | NP_001337473.1:p.Leu816= | |
| NM_001350545.2:c.2304G>A | NP_001337474.1:p.Leu768= | |
| NM_001350546.2:c.2304G>A | NP_001337475.1:p.Leu768= | |
| NM_001350547.2:c.1698G>A | NP_001337476.1:p.Leu566= | |
| NM_001350548.2:c.1593G>A | NP_001337477.1:p.Leu531= | |
| NM_001350549.2:c.1593G>A | NP_001337478.1:p.Leu531= | |
| NM_001350550.2:c.1593G>A | NP_001337479.1:p.Leu531= | |
| NM_001350551.2:c.1593G>A | NP_001337480.1:p.Leu531= | |
| NM_001350552.2:c.1593G>A | NP_001337481.1:p.Leu531= | |
| NM_001350553.2:c.1566G>A | NP_001337482.1:p.Leu522= | |
| NM_020468.6:c.2589G>A | NP_065201.1:p.Leu863= | |
| NR_146774.2:n.2884G>A | ||
| NR_146775.2:n.2887G>A | ||
| NR_146776.2:n.3010G>A | ||
| NR_146777.2:n.3138G>A | ||
| NR_146778.2:n.3142G>A | ||
| NR_146779.2:n.3139G>A |