Linked Data
ClinVar Variation Id:
357859
dbSNP Id:
rs373553229
ExAC:
6:73043431 T / C
gnomAD v2:
6-73043431-T-C
gnomAD v3:
6-72333728-T-C
gnomAD v4:
6-72333728-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.72333728T>C , CM000668.2:g.72333728T>C | GRCh38 |
| NC_000006.11:g.73043431T>C , CM000668.1:g.73043431T>C | GRCh37 |
| NC_000006.10:g.73100152T>C | NCBI36 |
| NG_016209.1:g.451782T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697193.1:c.3728T>C | ENSP00000513179.1:p.Val1243Ala | |
| ENST00000521978.6:c.4259T>C MANE Select | ENSP00000428417.1:p.Val1420Ala | |
| ENST00000264839.11:c.3806T>C | ENSP00000264839.7:p.Val1269Ala | |
| ENST00000370420.8:c.1403T>C | ENSP00000359448.4:p.Val468Ala | |
| ENST00000401910.7:c.2219T>C | ENSP00000385649.3:p.Val740Ala | |
| ENST00000425662.6:c.1570+41682T>C | ENSP00000411235.2:n.1570+41682T>C | |
| ENST00000453976.6:c.1754T>C | ENSP00000389503.2:p.Val585Ala | |
| ENST00000463023.6:n.254+41682T>C | ||
| ENST00000491071.6:c.3728T>C | ENSP00000430101.1:p.Val1243Ala | |
| ENST00000517433.5:c.2295T>C | ||
| ENST00000517827.5:c.1768+41682T>C | ENSP00000428367.1:n.1768+41682T>C | |
| ENST00000517960.5:c.3608T>C | ENSP00000429959.1:p.Val1203Ala | |
| ENST00000518273.5:c.3403+41682T>C | ENSP00000430408.1:n.3403+41682T>C | |
| ENST00000520567.5:c.3316+41682T>C | ENSP00000430502.1:n.3316+41682T>C | |
| ENST00000521978.5:c.4259T>C | ENSP00000428417.1:p.Val1420Ala | |
| ENST00000522211.5:c.1012T>C | ||
| ENST00000522291.5:c.3163+41682T>C | ENSP00000430932.1:n.3163+41682T>C | |
| ENST00000523963.5:c.1741+41682T>C | ENSP00000428328.1:n.1741+41682T>C | |
| NM_001168407.1:c.2219T>C | NP_001161879.1:p.Val740Ala | |
| NM_001168408.1:c.1741+41682T>C | NP_001161880.1:n.1741+41682T>C | |
| NM_001168409.1:c.1570+41682T>C | NP_001161881.1:n.1570+41682T>C | |
| NM_001168410.1:c.1768+41682T>C | NP_001161882.1:n.1768+41682T>C | |
| NM_014989.5:c.4259T>C | NP_055804.2:p.Val1420Ala | |
| XM_005248688.2:c.3728T>C | XP_005248745.1:p.Val1243Ala | |
| XM_011535602.1:c.2432T>C | XP_011533904.1:p.Val811Ala | |
| XM_011535603.1:c.2279T>C | XP_011533905.1:p.Val760Ala | |
| XM_011535604.1:c.2216T>C | XP_011533906.1:p.Val739Ala | |
| XM_011535605.1:c.4205T>C | XP_011533907.1:p.Val1402Ala | |
| XM_011535606.1:c.2177T>C | XP_011533908.1:p.Val726Ala | |
| XM_011535607.1:c.2159T>C | XP_011533909.1:p.Val720Ala | |
| XM_011535608.1:c.2096T>C | XP_011533910.1:p.Val699Ala | |
| XM_011535609.1:c.2027T>C | XP_011533911.1:p.Val676Ala | |
| XM_011535610.1:c.2024T>C | XP_011533912.1:p.Val675Ala | |
| XM_011535611.1:c.1991T>C | XP_011533913.1:p.Val664Ala | |
| XM_011535612.1:c.1810+41682T>C | XP_011533914.1:n.1810+41682T>C | |
| XM_011535613.1:c.1738+41682T>C | XP_011533915.1:n.1738+41682T>C | |
| XM_011535615.1:c.1735+41682T>C | XP_011533917.1:n.1735+41682T>C | |
| XM_011535616.1:c.1720+41682T>C | XP_011533918.1:n.1720+41682T>C | |
| XM_011535617.1:c.1582+41682T>C | XP_011533919.1:n.1582+41682T>C | |
| XM_011535618.1:c.551T>C | XP_011533920.1:p.Val184Ala | |
| NM_001350414.1:c.2180T>C | NP_001337343.1:p.Val727Ala | |
| NM_001350415.1:c.2276T>C | NP_001337344.1:p.Val759Ala | |
| NM_001350416.1:c.2225T>C | NP_001337345.1:p.Val742Ala | |
| NM_001350417.1:c.1813+41682T>C | NP_001337346.1:n.1813+41682T>C | |
| NM_001350418.1:c.2198T>C | NP_001337347.1:p.Val733Ala | |
| NM_001350419.1:c.1585+41682T>C | NP_001337348.1:n.1585+41682T>C | |
| NM_001350420.1:c.2333T>C | NP_001337349.1:p.Val778Ala | |
| NM_001350421.1:c.2078T>C | NP_001337350.1:p.Val693Ala | |
| NM_001350422.1:c.1810+41682T>C | NP_001337351.1:n.1810+41682T>C | |
| NM_001350423.1:c.1967T>C | NP_001337352.1:p.Val656Ala | |
| NM_001350424.1:c.1672+41682T>C | NP_001337353.1:n.1672+41682T>C | |
| NM_001350425.1:c.2177T>C | NP_001337354.1:p.Val726Ala | |
| NM_001350426.1:c.1660+41682T>C | NP_001337355.1:n.1660+41682T>C | |
| NM_001350427.1:c.1738+41682T>C | NP_001337356.1:n.1738+41682T>C | |
| NM_001350428.1:c.1744+41682T>C | NP_001337357.1:n.1744+41682T>C | |
| NM_001350429.1:c.1997T>C | NP_001337358.1:p.Val666Ala | |
| NM_001350430.1:c.1741+41682T>C | NP_001337359.1:n.1741+41682T>C | |
| NM_001350431.1:c.2315T>C | NP_001337360.1:p.Val772Ala | |
| NM_001350432.1:c.1648+41682T>C | NP_001337361.1:n.1648+41682T>C | |
| NM_001350433.1:c.2306T>C | NP_001337362.1:p.Val769Ala | |
| NM_001350434.1:c.1888+41682T>C | NP_001337363.1:n.1888+41682T>C | |
| NM_001350435.1:c.2168T>C | NP_001337364.1:p.Val723Ala | |
| NM_001350436.1:c.2411T>C | NP_001337365.1:p.Val804Ala | |
| NM_001350437.1:c.2162T>C | NP_001337366.1:p.Val721Ala | |
| NM_001350438.1:c.1993+41682T>C | NP_001337367.1:n.1993+41682T>C | |
| NM_001350439.1:c.2150T>C | NP_001337368.1:p.Val717Ala | |
| NM_001350440.1:c.1657+41682T>C | NP_001337369.1:n.1657+41682T>C | |
| NM_001350441.1:c.2147T>C | NP_001337370.1:p.Val716Ala | |
| NM_001350442.1:c.1996+41682T>C | NP_001337371.1:n.1996+41682T>C | |
| NM_001350443.1:c.2120T>C | NP_001337372.1:p.Val707Ala | |
| NM_001350444.1:c.1994T>C | NP_001337373.1:p.Val665Ala | |
| NM_001350445.1:c.1894+41682T>C | NP_001337374.1:n.1894+41682T>C | |
| NM_001350446.1:c.2405T>C | NP_001337375.1:p.Val802Ala | |
| NM_001350447.1:c.2066T>C | NP_001337376.1:p.Val689Ala | |
| NM_001350448.1:c.2222T>C | NP_001337377.1:p.Val741Ala | |
| NM_001350449.1:c.1720+41682T>C | NP_001337378.1:n.1720+41682T>C | |
| NM_001350450.1:c.1669+41682T>C | NP_001337379.1:n.1669+41682T>C | |
| NM_001350454.1:c.2129T>C | NP_001337383.1:p.Val710Ala | |
| NM_001350455.1:c.1588+41682T>C | NP_001337384.1:n.1588+41682T>C | |
| NM_001350456.1:c.2402T>C | NP_001337385.1:p.Val801Ala | |
| NM_001350457.1:c.2159T>C | NP_001337386.1:p.Val720Ala | |
| NM_001350458.1:c.2228T>C | NP_001337387.1:p.Val743Ala | |
| NM_001350459.1:c.2081T>C | NP_001337388.1:p.Val694Ala | |
| NM_001350460.1:c.2099T>C | NP_001337389.1:p.Val700Ala | |
| NM_001350461.1:c.1949T>C | NP_001337390.1:p.Val650Ala | |
| NM_001350462.1:c.2264T>C | NP_001337391.1:p.Val755Ala | |
| NM_001350463.1:c.1904T>C | NP_001337392.1:p.Val635Ala | |
| NM_001350464.1:c.1907T>C | NP_001337393.1:p.Val636Ala | |
| NM_001350465.1:c.1498+41682T>C | NP_001337394.1:n.1498+41682T>C | |
| NM_001350466.1:c.1910T>C | NP_001337395.1:p.Val637Ala | |
| NM_001350467.1:c.1826T>C | NP_001337396.1:p.Val609Ala | |
| NM_001350468.1:c.1751T>C | NP_001337397.1:p.Val584Ala | |
| NM_001350469.1:c.1979T>C | NP_001337398.1:p.Val660Ala | |
| NM_001350470.1:c.1774+41682T>C | NP_001337399.1:n.1774+41682T>C | |
| NM_001350471.1:c.2060T>C | NP_001337400.1:p.Val687Ala | |
| NM_001350472.1:c.1693+41682T>C | NP_001337401.1:n.1693+41682T>C | |
| NM_001350473.1:c.1696+41682T>C | NP_001337402.1:n.1696+41682T>C | |
| NM_001350474.1:c.1952T>C | NP_001337403.1:p.Val651Ala | |
| XM_005248688.4:c.3728T>C | XP_005248745.1:p.Val1243Ala | |
| XM_011535604.3:c.3797T>C | XP_011533906.2:p.Val1266Ala | |
| XM_017010516.2:c.4046T>C | XP_016866005.1:p.Val1349Ala | |
| XM_017010517.2:c.3953T>C | XP_016866006.1:p.Val1318Ala | |
| XM_017010518.2:c.3950T>C | XP_016866007.1:p.Val1317Ala | |
| XM_017010519.2:c.3893T>C | XP_016866008.1:p.Val1298Ala | |
| XM_017010520.2:c.3881T>C | XP_016866009.1:p.Val1294Ala | |
| XM_017010521.2:c.3863T>C | XP_016866010.1:p.Val1288Ala | |
| XM_017010522.2:c.3800T>C | XP_016866011.1:p.Val1267Ala | |
| XM_017010523.2:c.3773T>C | XP_016866012.1:p.Val1258Ala | |
| XM_017010524.2:c.3755T>C | XP_016866013.1:p.Val1252Ala | |
| XM_017010525.2:c.3740T>C | XP_016866014.1:p.Val1247Ala | |
| XM_017010526.2:c.3728T>C | XP_016866015.1:p.Val1243Ala | |
| XM_017010527.2:c.3725T>C | XP_016866016.1:p.Val1242Ala | |
| XM_017010537.2:c.2303T>C | XP_016866026.1:p.Val768Ala | |
| XM_017010544.2:c.2147T>C | XP_016866033.1:p.Val716Ala | |
| XM_017010546.2:c.2123T>C | XP_016866035.1:p.Val708Ala | |
| XM_017010556.2:c.377T>C | XP_016866045.1:p.Val126Ala | |
| XM_017010557.2:c.209T>C | XP_016866046.1:p.Val70Ala | |
| XM_017010558.2:c.209T>C | XP_016866047.1:p.Val70Ala | |
| XM_024446369.1:c.4133T>C | XP_024302137.1:p.Val1378Ala | |
| XM_024446370.1:c.3770T>C | XP_024302138.1:p.Val1257Ala | |
| XM_024446371.1:c.3731T>C | XP_024302139.1:p.Val1244Ala | |
| XM_024446372.1:c.2300T>C | XP_024302140.1:p.Val767Ala | |
| NM_001168407.2:c.2219T>C | NP_001161879.1:p.Val740Ala | |
| NM_001168408.2:c.1741+41682T>C | NP_001161880.1:n.1741+41682T>C | |
| NM_001168409.2:c.1570+41682T>C | NP_001161881.1:n.1570+41682T>C | |
| NM_001168410.2:c.1768+41682T>C | NP_001161882.1:n.1768+41682T>C | |
| NM_001350414.2:c.2180T>C | NP_001337343.1:p.Val727Ala | |
| NM_001350415.2:c.2276T>C | NP_001337344.1:p.Val759Ala | |
| NM_001350416.2:c.2225T>C | NP_001337345.1:p.Val742Ala | |
| NM_001350417.2:c.1813+41682T>C | NP_001337346.1:n.1813+41682T>C | |
| NM_001350418.2:c.2198T>C | NP_001337347.1:p.Val733Ala | |
| NM_001350419.2:c.1585+41682T>C | NP_001337348.1:n.1585+41682T>C | |
| NM_001350420.2:c.2333T>C | NP_001337349.1:p.Val778Ala | |
| NM_001350421.2:c.2078T>C | NP_001337350.1:p.Val693Ala | |
| NM_001350422.2:c.1810+41682T>C | NP_001337351.1:n.1810+41682T>C | |
| NM_001350423.2:c.1967T>C | NP_001337352.1:p.Val656Ala | |
| NM_001350424.2:c.1672+41682T>C | NP_001337353.1:n.1672+41682T>C | |
| NM_001350425.2:c.2177T>C | NP_001337354.1:p.Val726Ala | |
| NM_001350426.2:c.1660+41682T>C | NP_001337355.1:n.1660+41682T>C | |
| NM_001350427.2:c.1738+41682T>C | NP_001337356.1:n.1738+41682T>C | |
| NM_001350428.2:c.1744+41682T>C | NP_001337357.1:n.1744+41682T>C | |
| NM_001350429.2:c.1997T>C | NP_001337358.1:p.Val666Ala | |
| NM_001350430.2:c.1741+41682T>C | NP_001337359.1:n.1741+41682T>C | |
| NM_001350431.2:c.2315T>C | NP_001337360.1:p.Val772Ala | |
| NM_001350432.2:c.1648+41682T>C | NP_001337361.1:n.1648+41682T>C | |
| NM_001350433.2:c.2306T>C | NP_001337362.1:p.Val769Ala | |
| NM_001350434.2:c.1888+41682T>C | NP_001337363.1:n.1888+41682T>C | |
| NM_001350435.2:c.2168T>C | NP_001337364.1:p.Val723Ala | |
| NM_001350436.2:c.2411T>C | NP_001337365.1:p.Val804Ala | |
| NM_001350437.2:c.2162T>C | NP_001337366.1:p.Val721Ala | |
| NM_001350438.2:c.1993+41682T>C | NP_001337367.1:n.1993+41682T>C | |
| NM_001350439.2:c.2150T>C | NP_001337368.1:p.Val717Ala | |
| NM_001350440.2:c.1657+41682T>C | NP_001337369.1:n.1657+41682T>C | |
| NM_001350441.2:c.2147T>C | NP_001337370.1:p.Val716Ala | |
| NM_001350442.2:c.1996+41682T>C | NP_001337371.1:n.1996+41682T>C | |
| NM_001350443.2:c.2120T>C | NP_001337372.1:p.Val707Ala | |
| NM_001350444.2:c.1994T>C | NP_001337373.1:p.Val665Ala | |
| NM_001350445.2:c.1894+41682T>C | NP_001337374.1:n.1894+41682T>C | |
| NM_001350446.2:c.2405T>C | NP_001337375.1:p.Val802Ala | |
| NM_001350447.2:c.2066T>C | NP_001337376.1:p.Val689Ala | |
| NM_001350448.2:c.2222T>C | NP_001337377.1:p.Val741Ala | |
| NM_001350449.2:c.1720+41682T>C | NP_001337378.1:n.1720+41682T>C | |
| NM_001350450.2:c.1669+41682T>C | NP_001337379.1:n.1669+41682T>C | |
| NM_001350454.2:c.2129T>C | NP_001337383.1:p.Val710Ala | |
| NM_001350455.2:c.1588+41682T>C | NP_001337384.1:n.1588+41682T>C | |
| NM_001350456.2:c.2402T>C | NP_001337385.1:p.Val801Ala | |
| NM_001350457.2:c.2159T>C | NP_001337386.1:p.Val720Ala | |
| NM_001350458.2:c.2228T>C | NP_001337387.1:p.Val743Ala | |
| NM_001350459.2:c.2081T>C | NP_001337388.1:p.Val694Ala | |
| NM_001350460.2:c.2099T>C | NP_001337389.1:p.Val700Ala | |
| NM_001350461.2:c.1949T>C | NP_001337390.1:p.Val650Ala | |
| NM_001350462.2:c.2264T>C | NP_001337391.1:p.Val755Ala | |
| NM_001350463.2:c.1904T>C | NP_001337392.1:p.Val635Ala | |
| NM_001350464.2:c.1907T>C | NP_001337393.1:p.Val636Ala | |
| NM_001350465.2:c.1498+41682T>C | NP_001337394.1:n.1498+41682T>C | |
| NM_001350466.2:c.1910T>C | NP_001337395.1:p.Val637Ala | |
| NM_001350467.2:c.1826T>C | NP_001337396.1:p.Val609Ala | |
| NM_001350468.2:c.1751T>C | NP_001337397.1:p.Val584Ala | |
| NM_001350469.2:c.1979T>C | NP_001337398.1:p.Val660Ala | |
| NM_001350470.2:c.1774+41682T>C | NP_001337399.1:n.1774+41682T>C | |
| NM_001350471.2:c.2060T>C | NP_001337400.1:p.Val687Ala | |
| NM_001350472.2:c.1693+41682T>C | NP_001337401.1:n.1693+41682T>C | |
| NM_001350473.2:c.1696+41682T>C | NP_001337402.1:n.1696+41682T>C | |
| NM_001350474.2:c.1952T>C | NP_001337403.1:p.Val651Ala | |
| NM_014989.7:c.4259T>C MANE Select | NP_055804.2:p.Val1420Ala |