Linked Data
ClinVar Variation Id:
787305
ClinVar RCV Id:
RCV000969515
dbSNP Id:
rs6912747
ExAC:
6:84292032 A / C
gnomAD v2:
6-84292032-A-C
gnomAD v3:
6-83582313-A-C
gnomAD v4:
6-83582313-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83582313A>C , CM000668.2:g.83582313A>C | GRCh38 |
| NC_000006.11:g.84292032A>C , CM000668.1:g.84292032A>C | GRCh37 |
| NC_000006.10:g.84348751A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369694.7:c.2058T>G MANE Select | ENSP00000358708.2:p.Thr686= | |
| ENST00000195649.10:c.2058T>G | ENSP00000195649.6:p.Thr686= | |
| ENST00000369694.6:c.2058T>G | ENSP00000358708.2:p.Thr686= | |
| ENST00000439399.6:c.2058T>G | ENSP00000400459.2:p.Thr686= | |
| ENST00000518312.5:c.*2149T>G | ENSP00000429937.1:n.*2149T>G | |
| ENST00000520213.5:c.1137T>G | ENSP00000428026.1:p.Thr379= | |
| ENST00000520302.5:c.1968T>G | ENSP00000428511.1:p.Thr656= | |
| ENST00000521485.5:c.2058T>G | ENSP00000429776.1:p.Thr686= | |
| ENST00000521616.5:c.*1783T>G | ENSP00000428127.1:n.*1783T>G | |
| ENST00000521743.5:c.2058T>G | ENSP00000428215.1:p.Thr686= | |
| ENST00000521931.5:c.1497T>G | ENSP00000430071.1:p.Thr499= | |
| ENST00000523448.5:c.81T>G | ENSP00000430255.1:p.Thr27= | |
| NM_001242792.1:c.2058T>G | NP_001229721.1:p.Thr686= | |
| NM_001242793.1:c.1968T>G | NP_001229722.1:p.Thr656= | |
| NM_001242794.1:c.1137T>G | NP_001229723.1:p.Thr379= | |
| NM_001256717.1:c.1785T>G | NP_001243646.1:p.Thr595= | |
| NM_001256718.1:c.1701T>G | NP_001243647.1:p.Thr567= | |
| NM_014841.2:c.2058T>G | NP_055656.1:p.Thr686= | |
| XM_005248770.3:c.2058T>G | XP_005248827.1:p.Thr686= | |
| XM_006715615.1:c.2058T>G | XP_006715678.1:p.Thr686= | |
| XM_011536265.1:c.2058T>G | XP_011534567.1:p.Thr686= | |
| XM_011536266.1:c.2058T>G | XP_011534568.1:p.Thr686= | |
| XM_011536267.1:c.2052T>G | XP_011534569.1:p.Thr684= | |
| XM_011536268.1:c.2043T>G | XP_011534570.1:p.Thr681= | |
| XM_011536269.1:c.2058T>G | XP_011534571.1:p.Thr686= | |
| XM_011536270.1:c.2037T>G | XP_011534572.1:p.Thr679= | |
| XM_011536271.1:c.2016T>G | XP_011534573.1:p.Thr672= | |
| XM_011536272.1:c.2010T>G | XP_011534574.1:p.Thr670= | |
| XM_011536273.1:c.1980T>G | XP_011534575.1:p.Thr660= | |
| XM_011536274.1:c.2058T>G | XP_011534576.1:p.Thr686= | |
| XM_011536275.1:c.1974T>G | XP_011534577.1:p.Thr658= | |
| XM_011536276.1:c.1950T>G | XP_011534578.1:p.Thr650= | |
| XM_011536277.1:c.1884T>G | XP_011534579.1:p.Thr628= | |
| XM_011536278.1:c.1368T>G | XP_011534580.1:p.Thr456= | |
| XM_011536279.1:c.1185T>G | XP_011534581.1:p.Thr395= | |
| XM_011536280.1:c.1179T>G | XP_011534582.1:p.Thr393= | |
| XR_942645.1:n.2132T>G | ||
| XR_942646.1:n.2216T>G | ||
| NM_001363677.1:c.2058T>G | NP_001350606.1:p.Thr686= | |
| XM_005248770.5:c.2058T>G | XP_005248827.1:p.Thr686= | |
| XM_011536273.3:c.1980T>G | XP_011534575.1:p.Thr660= | |
| XM_011536275.2:c.1974T>G | XP_011534577.1:p.Thr658= | |
| XM_011536276.3:c.1950T>G | XP_011534578.1:p.Thr650= | |
| XM_017011554.1:c.2052T>G | XP_016867043.1:p.Thr684= | |
| XM_017011555.1:c.2052T>G | XP_016867044.1:p.Thr684= | |
| XM_017011556.1:c.2052T>G | XP_016867045.1:p.Thr684= | |
| XM_017011557.2:c.2058T>G | XP_016867046.1:p.Thr686= | |
| XM_017011558.1:c.2058T>G | XP_016867047.1:p.Thr686= | |
| XM_017011559.1:c.2058T>G | XP_016867048.1:p.Thr686= | |
| XM_017011560.2:c.2058T>G | XP_016867049.1:p.Thr686= | |
| XM_017011562.2:c.2043T>G | XP_016867051.1:p.Thr681= | |
| XM_017011563.2:c.2037T>G | XP_016867052.1:p.Thr679= | |
| XM_017011564.2:c.2037T>G | XP_016867053.1:p.Thr679= | |
| XM_017011565.2:c.2037T>G | XP_016867054.1:p.Thr679= | |
| XM_017011566.2:c.2016T>G | XP_016867055.1:p.Thr672= | |
| XM_017011567.1:c.2016T>G | XP_016867056.1:p.Thr672= | |
| XM_017011568.2:c.2010T>G | XP_016867057.1:p.Thr670= | |
| XM_017011569.2:c.2016T>G | XP_016867058.1:p.Thr672= | |
| XM_017011570.2:c.1980T>G | XP_016867059.1:p.Thr660= | |
| XM_017011571.2:c.1980T>G | XP_016867060.1:p.Thr660= | |
| XM_017011572.2:c.1980T>G | XP_016867061.1:p.Thr660= | |
| XM_017011573.2:c.1980T>G | XP_016867062.1:p.Thr660= | |
| XM_017011574.2:c.2058T>G | XP_016867063.1:p.Thr686= | |
| XM_017011575.1:c.1974T>G | XP_016867064.1:p.Thr658= | |
| XM_017011576.1:c.1974T>G | XP_016867065.1:p.Thr658= | |
| XM_017011577.1:c.1974T>G | XP_016867066.1:p.Thr658= | |
| XM_017011579.2:c.1974T>G | XP_016867068.1:p.Thr658= | |
| XM_017011580.2:c.1950T>G | XP_016867069.1:p.Thr650= | |
| XM_017011581.2:c.1950T>G | XP_016867070.1:p.Thr650= | |
| XM_017011582.2:c.1950T>G | XP_016867071.1:p.Thr650= | |
| XM_017011583.1:c.1950T>G | XP_016867072.1:p.Thr650= | |
| XM_017011584.2:c.1950T>G | XP_016867073.1:p.Thr650= | |
| XM_017011585.2:c.1950T>G | XP_016867074.1:p.Thr650= | |
| XM_017011586.1:c.1950T>G | XP_016867075.1:p.Thr650= | |
| XM_017011587.1:c.1950T>G | XP_016867076.1:p.Thr650= | |
| XM_017011589.2:c.1908T>G | XP_016867078.1:p.Thr636= | |
| XM_017011590.2:c.1866T>G | XP_016867079.1:p.Thr622= | |
| XM_024446599.1:c.2016T>G | XP_024302367.1:p.Thr672= | |
| XM_024446600.1:c.1980T>G | XP_024302368.1:p.Thr660= | |
| XM_024446601.1:c.2037T>G | XP_024302369.1:p.Thr679= | |
| NM_001376675.1:c.2052T>G | NP_001363604.1:p.Thr684= | |
| NM_001376676.1:c.2052T>G | NP_001363605.1:p.Thr684= | |
| NM_001376677.1:c.2052T>G | NP_001363606.1:p.Thr684= | |
| NM_001376678.1:c.2052T>G | NP_001363607.1:p.Thr684= | |
| NM_001376679.1:c.2052T>G | NP_001363608.1:p.Thr684= | |
| NM_001376680.1:c.2052T>G | NP_001363609.1:p.Thr684= | |
| NM_001376681.1:c.2052T>G | NP_001363610.1:p.Thr684= | |
| NM_001376682.1:c.2052T>G | NP_001363611.1:p.Thr684= | |
| NM_001376683.1:c.2049T>G | NP_001363612.1:p.Thr683= | |
| NM_001376684.1:c.2049T>G | NP_001363613.1:p.Thr683= | |
| NM_001376685.1:c.2052T>G | NP_001363614.1:p.Thr684= | |
| NM_001376686.1:c.2052T>G | NP_001363615.1:p.Thr684= | |
| NM_001376687.1:c.2037T>G | NP_001363616.1:p.Thr679= | |
| NM_001376688.1:c.2052T>G | NP_001363617.1:p.Thr684= | |
| NM_001376689.1:c.2052T>G | NP_001363618.1:p.Thr684= | |
| NM_001376690.1:c.2052T>G | NP_001363619.1:p.Thr684= | |
| NM_001376691.1:c.2052T>G | NP_001363620.1:p.Thr684= | |
| NM_001376692.1:c.2052T>G | NP_001363621.1:p.Thr684= | |
| NM_001376693.1:c.2031T>G | NP_001363622.1:p.Thr677= | |
| NM_001376694.1:c.2028T>G | NP_001363623.1:p.Thr676= | |
| NM_001376695.1:c.2010T>G | NP_001363624.1:p.Thr670= | |
| NM_001376696.1:c.2010T>G | NP_001363625.1:p.Thr670= | |
| NM_001376697.1:c.2010T>G | NP_001363626.1:p.Thr670= | |
| NM_001376698.1:c.2010T>G | NP_001363627.1:p.Thr670= | |
| NM_001376699.1:c.2052T>G | NP_001363628.1:p.Thr684= | |
| NM_001376700.1:c.2052T>G | NP_001363629.1:p.Thr684= | |
| NM_001376701.1:c.2010T>G | NP_001363630.1:p.Thr670= | |
| NM_001376702.1:c.1974T>G | NP_001363631.1:p.Thr658= | |
| NM_001376703.1:c.1974T>G | NP_001363632.1:p.Thr658= | |
| NM_001376704.1:c.1974T>G | NP_001363633.1:p.Thr658= | |
| NM_001376705.1:c.1974T>G | NP_001363634.1:p.Thr658= | |
| NM_001376706.1:c.1974T>G | NP_001363635.1:p.Thr658= | |
| NM_001376707.1:c.1974T>G | NP_001363636.1:p.Thr658= | |
| NM_001376708.1:c.1968T>G | NP_001363637.1:p.Thr656= | |
| NM_001376709.1:c.1968T>G | NP_001363638.1:p.Thr656= | |
| NM_001376710.1:c.1968T>G | NP_001363639.1:p.Thr656= | |
| NM_001376711.1:c.1968T>G | NP_001363640.1:p.Thr656= | |
| NM_001376712.1:c.2037T>G | NP_001363641.1:p.Thr679= | |
| NM_001376713.1:c.1974T>G | NP_001363642.1:p.Thr658= | |
| NM_001376714.1:c.1974T>G | NP_001363643.1:p.Thr658= | |
| NM_001376715.1:c.1959T>G | NP_001363644.1:p.Thr653= | |
| NM_001376716.1:c.1932T>G | NP_001363645.1:p.Thr644= | |
| NM_001376717.1:c.1932T>G | NP_001363646.1:p.Thr644= | |
| NM_001376718.1:c.1902T>G | NP_001363647.1:p.Thr634= | |
| NM_001376719.1:c.1890T>G | NP_001363648.1:p.Thr630= | |
| NM_001376720.1:c.1878T>G | NP_001363649.1:p.Thr626= | |
| NM_001376721.1:c.1878T>G | NP_001363650.1:p.Thr626= | |
| NM_001376723.1:c.1878T>G | NP_001363652.1:p.Thr626= | |
| NM_001376726.1:c.1878T>G | NP_001363655.1:p.Thr626= | |
| NM_001376728.1:c.1878T>G | NP_001363657.1:p.Thr626= | |
| NM_001376731.1:c.1890T>G | NP_001363660.1:p.Thr630= | |
| NM_001376733.1:c.1869T>G | NP_001363662.1:p.Thr623= | |
| NM_001376734.1:c.1869T>G | NP_001363663.1:p.Thr623= | |
| NM_001376735.1:c.1878T>G | NP_001363664.1:p.Thr626= | |
| NM_001376736.1:c.1848T>G | NP_001363665.1:p.Thr616= | |
| NM_001376737.1:c.1869T>G | NP_001363666.1:p.Thr623= | |
| NM_001376738.1:c.1347T>G | NP_001363667.1:p.Thr449= | |
| NM_001376739.1:c.1305T>G | NP_001363668.1:p.Thr435= | |
| NM_001376740.1:c.1347T>G | NP_001363669.1:p.Thr449= | |
| NR_164843.1:n.2190T>G | ||
| NR_164844.1:n.2075T>G | ||
| NR_164845.1:n.2339T>G | ||
| NR_164846.1:n.2156T>G | ||
| NM_001242792.2:c.2058T>G MANE Select | NP_001229721.1:p.Thr686= | |
| NM_001242793.2:c.1968T>G | NP_001229722.1:p.Thr656= | |
| NM_001242794.2:c.1137T>G | NP_001229723.1:p.Thr379= | |
| NM_001256717.2:c.1785T>G | NP_001243646.1:p.Thr595= | |
| NM_001256718.2:c.1701T>G | NP_001243647.1:p.Thr567= | |
| NM_001363677.2:c.2058T>G | NP_001350606.1:p.Thr686= | |
| NM_014841.3:c.2058T>G | NP_055656.1:p.Thr686= |