UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
1477725
ClinVar RCV Id:
RCV002018812
dbSNP Id:
rs752455133
ExAC:
6:73043332 G / A
gnomAD v2:
6-73043332-G-A
gnomAD v3:
6-72333629-G-A
gnomAD v4:
6-72333629-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.72333629G>A , CM000668.2:g.72333629G>A | GRCh38 |
| NC_000006.11:g.73043332G>A , CM000668.1:g.73043332G>A | GRCh37 |
| NC_000006.10:g.73100053G>A | NCBI36 |
| NG_016209.1:g.451683G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697193.1:c.3629G>A | ENSP00000513179.1:p.Arg1210Gln | |
| ENST00000521978.6:c.4160G>A MANE Select | ENSP00000428417.1:p.Arg1387Gln | |
| ENST00000264839.11:c.3707G>A | ENSP00000264839.7:p.Arg1236Gln | |
| ENST00000370420.8:c.1304G>A | ENSP00000359448.4:p.Arg435Gln | |
| ENST00000401910.7:c.2120G>A | ENSP00000385649.3:p.Arg707Gln | |
| ENST00000425662.6:c.1570+41583G>A | ENSP00000411235.2:n.1570+41583G>A | |
| ENST00000453976.6:c.1655G>A | ENSP00000389503.2:p.Arg552Gln | |
| ENST00000463023.6:n.254+41583G>A | ||
| ENST00000491071.6:c.3629G>A | ENSP00000430101.1:p.Arg1210Gln | |
| ENST00000517433.5:c.2196G>A | ||
| ENST00000517827.5:c.1768+41583G>A | ENSP00000428367.1:n.1768+41583G>A | |
| ENST00000517960.5:c.3509G>A | ENSP00000429959.1:p.Arg1170Gln | |
| ENST00000518273.5:c.3403+41583G>A | ENSP00000430408.1:n.3403+41583G>A | |
| ENST00000520567.5:c.3316+41583G>A | ENSP00000430502.1:n.3316+41583G>A | |
| ENST00000521978.5:c.4160G>A | ENSP00000428417.1:p.Arg1387Gln | |
| ENST00000522211.5:c.913G>A | ||
| ENST00000522291.5:c.3163+41583G>A | ENSP00000430932.1:n.3163+41583G>A | |
| ENST00000523963.5:c.1741+41583G>A | ENSP00000428328.1:n.1741+41583G>A | |
| NM_001168407.1:c.2120G>A | NP_001161879.1:p.Arg707Gln | |
| NM_001168408.1:c.1741+41583G>A | NP_001161880.1:n.1741+41583G>A | |
| NM_001168409.1:c.1570+41583G>A | NP_001161881.1:n.1570+41583G>A | |
| NM_001168410.1:c.1768+41583G>A | NP_001161882.1:n.1768+41583G>A | |
| NM_014989.5:c.4160G>A | NP_055804.2:p.Arg1387Gln | |
| XM_005248688.2:c.3629G>A | XP_005248745.1:p.Arg1210Gln | |
| XM_011535602.1:c.2333G>A | XP_011533904.1:p.Arg778Gln | |
| XM_011535603.1:c.2180G>A | XP_011533905.1:p.Arg727Gln | |
| XM_011535604.1:c.2117G>A | XP_011533906.1:p.Arg706Gln | |
| XM_011535605.1:c.4106G>A | XP_011533907.1:p.Arg1369Gln | |
| XM_011535606.1:c.2078G>A | XP_011533908.1:p.Arg693Gln | |
| XM_011535607.1:c.2060G>A | XP_011533909.1:p.Arg687Gln | |
| XM_011535608.1:c.1997G>A | XP_011533910.1:p.Arg666Gln | |
| XM_011535609.1:c.1928G>A | XP_011533911.1:p.Arg643Gln | |
| XM_011535610.1:c.1925G>A | XP_011533912.1:p.Arg642Gln | |
| XM_011535611.1:c.1892G>A | XP_011533913.1:p.Arg631Gln | |
| XM_011535612.1:c.1810+41583G>A | XP_011533914.1:n.1810+41583G>A | |
| XM_011535613.1:c.1738+41583G>A | XP_011533915.1:n.1738+41583G>A | |
| XM_011535615.1:c.1735+41583G>A | XP_011533917.1:n.1735+41583G>A | |
| XM_011535616.1:c.1720+41583G>A | XP_011533918.1:n.1720+41583G>A | |
| XM_011535617.1:c.1582+41583G>A | XP_011533919.1:n.1582+41583G>A | |
| XM_011535618.1:c.452G>A | XP_011533920.1:p.Arg151Gln | |
| NM_001350414.1:c.2081G>A | NP_001337343.1:p.Arg694Gln | |
| NM_001350415.1:c.2177G>A | NP_001337344.1:p.Arg726Gln | |
| NM_001350416.1:c.2126G>A | NP_001337345.1:p.Arg709Gln | |
| NM_001350417.1:c.1813+41583G>A | NP_001337346.1:n.1813+41583G>A | |
| NM_001350418.1:c.2099G>A | NP_001337347.1:p.Arg700Gln | |
| NM_001350419.1:c.1585+41583G>A | NP_001337348.1:n.1585+41583G>A | |
| NM_001350420.1:c.2234G>A | NP_001337349.1:p.Arg745Gln | |
| NM_001350421.1:c.1979G>A | NP_001337350.1:p.Arg660Gln | |
| NM_001350422.1:c.1810+41583G>A | NP_001337351.1:n.1810+41583G>A | |
| NM_001350423.1:c.1868G>A | NP_001337352.1:p.Arg623Gln | |
| NM_001350424.1:c.1672+41583G>A | NP_001337353.1:n.1672+41583G>A | |
| NM_001350425.1:c.2078G>A | NP_001337354.1:p.Arg693Gln | |
| NM_001350426.1:c.1660+41583G>A | NP_001337355.1:n.1660+41583G>A | |
| NM_001350427.1:c.1738+41583G>A | NP_001337356.1:n.1738+41583G>A | |
| NM_001350428.1:c.1744+41583G>A | NP_001337357.1:n.1744+41583G>A | |
| NM_001350429.1:c.1898G>A | NP_001337358.1:p.Arg633Gln | |
| NM_001350430.1:c.1741+41583G>A | NP_001337359.1:n.1741+41583G>A | |
| NM_001350431.1:c.2216G>A | NP_001337360.1:p.Arg739Gln | |
| NM_001350432.1:c.1648+41583G>A | NP_001337361.1:n.1648+41583G>A | |
| NM_001350433.1:c.2207G>A | NP_001337362.1:p.Arg736Gln | |
| NM_001350434.1:c.1888+41583G>A | NP_001337363.1:n.1888+41583G>A | |
| NM_001350435.1:c.2069G>A | NP_001337364.1:p.Arg690Gln | |
| NM_001350436.1:c.2312G>A | NP_001337365.1:p.Arg771Gln | |
| NM_001350437.1:c.2063G>A | NP_001337366.1:p.Arg688Gln | |
| NM_001350438.1:c.1993+41583G>A | NP_001337367.1:n.1993+41583G>A | |
| NM_001350439.1:c.2051G>A | NP_001337368.1:p.Arg684Gln | |
| NM_001350440.1:c.1657+41583G>A | NP_001337369.1:n.1657+41583G>A | |
| NM_001350441.1:c.2048G>A | NP_001337370.1:p.Arg683Gln | |
| NM_001350442.1:c.1996+41583G>A | NP_001337371.1:n.1996+41583G>A | |
| NM_001350443.1:c.2021G>A | NP_001337372.1:p.Arg674Gln | |
| NM_001350444.1:c.1895G>A | NP_001337373.1:p.Arg632Gln | |
| NM_001350445.1:c.1894+41583G>A | NP_001337374.1:n.1894+41583G>A | |
| NM_001350446.1:c.2306G>A | NP_001337375.1:p.Arg769Gln | |
| NM_001350447.1:c.1967G>A | NP_001337376.1:p.Arg656Gln | |
| NM_001350448.1:c.2123G>A | NP_001337377.1:p.Arg708Gln | |
| NM_001350449.1:c.1720+41583G>A | NP_001337378.1:n.1720+41583G>A | |
| NM_001350450.1:c.1669+41583G>A | NP_001337379.1:n.1669+41583G>A | |
| NM_001350454.1:c.2030G>A | NP_001337383.1:p.Arg677Gln | |
| NM_001350455.1:c.1588+41583G>A | NP_001337384.1:n.1588+41583G>A | |
| NM_001350456.1:c.2303G>A | NP_001337385.1:p.Arg768Gln | |
| NM_001350457.1:c.2060G>A | NP_001337386.1:p.Arg687Gln | |
| NM_001350458.1:c.2129G>A | NP_001337387.1:p.Arg710Gln | |
| NM_001350459.1:c.1982G>A | NP_001337388.1:p.Arg661Gln | |
| NM_001350460.1:c.2000G>A | NP_001337389.1:p.Arg667Gln | |
| NM_001350461.1:c.1850G>A | NP_001337390.1:p.Arg617Gln | |
| NM_001350462.1:c.2165G>A | NP_001337391.1:p.Arg722Gln | |
| NM_001350463.1:c.1805G>A | NP_001337392.1:p.Arg602Gln | |
| NM_001350464.1:c.1808G>A | NP_001337393.1:p.Arg603Gln | |
| NM_001350465.1:c.1498+41583G>A | NP_001337394.1:n.1498+41583G>A | |
| NM_001350466.1:c.1811G>A | NP_001337395.1:p.Arg604Gln | |
| NM_001350467.1:c.1727G>A | NP_001337396.1:p.Arg576Gln | |
| NM_001350468.1:c.1652G>A | NP_001337397.1:p.Arg551Gln | |
| NM_001350469.1:c.1880G>A | NP_001337398.1:p.Arg627Gln | |
| NM_001350470.1:c.1774+41583G>A | NP_001337399.1:n.1774+41583G>A | |
| NM_001350471.1:c.1961G>A | NP_001337400.1:p.Arg654Gln | |
| NM_001350472.1:c.1693+41583G>A | NP_001337401.1:n.1693+41583G>A | |
| NM_001350473.1:c.1696+41583G>A | NP_001337402.1:n.1696+41583G>A | |
| NM_001350474.1:c.1853G>A | NP_001337403.1:p.Arg618Gln | |
| XM_005248688.4:c.3629G>A | XP_005248745.1:p.Arg1210Gln | |
| XM_011535604.3:c.3698G>A | XP_011533906.2:p.Arg1233Gln | |
| XM_017010516.2:c.3947G>A | XP_016866005.1:p.Arg1316Gln | |
| XM_017010517.2:c.3854G>A | XP_016866006.1:p.Arg1285Gln | |
| XM_017010518.2:c.3851G>A | XP_016866007.1:p.Arg1284Gln | |
| XM_017010519.2:c.3794G>A | XP_016866008.1:p.Arg1265Gln | |
| XM_017010520.2:c.3782G>A | XP_016866009.1:p.Arg1261Gln | |
| XM_017010521.2:c.3764G>A | XP_016866010.1:p.Arg1255Gln | |
| XM_017010522.2:c.3701G>A | XP_016866011.1:p.Arg1234Gln | |
| XM_017010523.2:c.3674G>A | XP_016866012.1:p.Arg1225Gln | |
| XM_017010524.2:c.3656G>A | XP_016866013.1:p.Arg1219Gln | |
| XM_017010525.2:c.3641G>A | XP_016866014.1:p.Arg1214Gln | |
| XM_017010526.2:c.3629G>A | XP_016866015.1:p.Arg1210Gln | |
| XM_017010527.2:c.3626G>A | XP_016866016.1:p.Arg1209Gln | |
| XM_017010537.2:c.2204G>A | XP_016866026.1:p.Arg735Gln | |
| XM_017010544.2:c.2048G>A | XP_016866033.1:p.Arg683Gln | |
| XM_017010546.2:c.2024G>A | XP_016866035.1:p.Arg675Gln | |
| XM_017010556.2:c.278G>A | XP_016866045.1:p.Arg93Gln | |
| XM_017010557.2:c.110G>A | XP_016866046.1:p.Arg37Gln | |
| XM_017010558.2:c.110G>A | XP_016866047.1:p.Arg37Gln | |
| XM_024446369.1:c.4034G>A | XP_024302137.1:p.Arg1345Gln | |
| XM_024446370.1:c.3671G>A | XP_024302138.1:p.Arg1224Gln | |
| XM_024446371.1:c.3632G>A | XP_024302139.1:p.Arg1211Gln | |
| XM_024446372.1:c.2201G>A | XP_024302140.1:p.Arg734Gln | |
| NM_001168407.2:c.2120G>A | NP_001161879.1:p.Arg707Gln | |
| NM_001168408.2:c.1741+41583G>A | NP_001161880.1:n.1741+41583G>A | |
| NM_001168409.2:c.1570+41583G>A | NP_001161881.1:n.1570+41583G>A | |
| NM_001168410.2:c.1768+41583G>A | NP_001161882.1:n.1768+41583G>A | |
| NM_001350414.2:c.2081G>A | NP_001337343.1:p.Arg694Gln | |
| NM_001350415.2:c.2177G>A | NP_001337344.1:p.Arg726Gln | |
| NM_001350416.2:c.2126G>A | NP_001337345.1:p.Arg709Gln | |
| NM_001350417.2:c.1813+41583G>A | NP_001337346.1:n.1813+41583G>A | |
| NM_001350418.2:c.2099G>A | NP_001337347.1:p.Arg700Gln | |
| NM_001350419.2:c.1585+41583G>A | NP_001337348.1:n.1585+41583G>A | |
| NM_001350420.2:c.2234G>A | NP_001337349.1:p.Arg745Gln | |
| NM_001350421.2:c.1979G>A | NP_001337350.1:p.Arg660Gln | |
| NM_001350422.2:c.1810+41583G>A | NP_001337351.1:n.1810+41583G>A | |
| NM_001350423.2:c.1868G>A | NP_001337352.1:p.Arg623Gln | |
| NM_001350424.2:c.1672+41583G>A | NP_001337353.1:n.1672+41583G>A | |
| NM_001350425.2:c.2078G>A | NP_001337354.1:p.Arg693Gln | |
| NM_001350426.2:c.1660+41583G>A | NP_001337355.1:n.1660+41583G>A | |
| NM_001350427.2:c.1738+41583G>A | NP_001337356.1:n.1738+41583G>A | |
| NM_001350428.2:c.1744+41583G>A | NP_001337357.1:n.1744+41583G>A | |
| NM_001350429.2:c.1898G>A | NP_001337358.1:p.Arg633Gln | |
| NM_001350430.2:c.1741+41583G>A | NP_001337359.1:n.1741+41583G>A | |
| NM_001350431.2:c.2216G>A | NP_001337360.1:p.Arg739Gln | |
| NM_001350432.2:c.1648+41583G>A | NP_001337361.1:n.1648+41583G>A | |
| NM_001350433.2:c.2207G>A | NP_001337362.1:p.Arg736Gln | |
| NM_001350434.2:c.1888+41583G>A | NP_001337363.1:n.1888+41583G>A | |
| NM_001350435.2:c.2069G>A | NP_001337364.1:p.Arg690Gln | |
| NM_001350436.2:c.2312G>A | NP_001337365.1:p.Arg771Gln | |
| NM_001350437.2:c.2063G>A | NP_001337366.1:p.Arg688Gln | |
| NM_001350438.2:c.1993+41583G>A | NP_001337367.1:n.1993+41583G>A | |
| NM_001350439.2:c.2051G>A | NP_001337368.1:p.Arg684Gln | |
| NM_001350440.2:c.1657+41583G>A | NP_001337369.1:n.1657+41583G>A | |
| NM_001350441.2:c.2048G>A | NP_001337370.1:p.Arg683Gln | |
| NM_001350442.2:c.1996+41583G>A | NP_001337371.1:n.1996+41583G>A | |
| NM_001350443.2:c.2021G>A | NP_001337372.1:p.Arg674Gln | |
| NM_001350444.2:c.1895G>A | NP_001337373.1:p.Arg632Gln | |
| NM_001350445.2:c.1894+41583G>A | NP_001337374.1:n.1894+41583G>A | |
| NM_001350446.2:c.2306G>A | NP_001337375.1:p.Arg769Gln | |
| NM_001350447.2:c.1967G>A | NP_001337376.1:p.Arg656Gln | |
| NM_001350448.2:c.2123G>A | NP_001337377.1:p.Arg708Gln | |
| NM_001350449.2:c.1720+41583G>A | NP_001337378.1:n.1720+41583G>A | |
| NM_001350450.2:c.1669+41583G>A | NP_001337379.1:n.1669+41583G>A | |
| NM_001350454.2:c.2030G>A | NP_001337383.1:p.Arg677Gln | |
| NM_001350455.2:c.1588+41583G>A | NP_001337384.1:n.1588+41583G>A | |
| NM_001350456.2:c.2303G>A | NP_001337385.1:p.Arg768Gln | |
| NM_001350457.2:c.2060G>A | NP_001337386.1:p.Arg687Gln | |
| NM_001350458.2:c.2129G>A | NP_001337387.1:p.Arg710Gln | |
| NM_001350459.2:c.1982G>A | NP_001337388.1:p.Arg661Gln | |
| NM_001350460.2:c.2000G>A | NP_001337389.1:p.Arg667Gln | |
| NM_001350461.2:c.1850G>A | NP_001337390.1:p.Arg617Gln | |
| NM_001350462.2:c.2165G>A | NP_001337391.1:p.Arg722Gln | |
| NM_001350463.2:c.1805G>A | NP_001337392.1:p.Arg602Gln | |
| NM_001350464.2:c.1808G>A | NP_001337393.1:p.Arg603Gln | |
| NM_001350465.2:c.1498+41583G>A | NP_001337394.1:n.1498+41583G>A | |
| NM_001350466.2:c.1811G>A | NP_001337395.1:p.Arg604Gln | |
| NM_001350467.2:c.1727G>A | NP_001337396.1:p.Arg576Gln | |
| NM_001350468.2:c.1652G>A | NP_001337397.1:p.Arg551Gln | |
| NM_001350469.2:c.1880G>A | NP_001337398.1:p.Arg627Gln | |
| NM_001350470.2:c.1774+41583G>A | NP_001337399.1:n.1774+41583G>A | |
| NM_001350471.2:c.1961G>A | NP_001337400.1:p.Arg654Gln | |
| NM_001350472.2:c.1693+41583G>A | NP_001337401.1:n.1693+41583G>A | |
| NM_001350473.2:c.1696+41583G>A | NP_001337402.1:n.1696+41583G>A | |
| NM_001350474.2:c.1853G>A | NP_001337403.1:p.Arg618Gln | |
| NM_014989.7:c.4160G>A MANE Select | NP_055804.2:p.Arg1387Gln |