Linked Data
ClinVar Variation Id:
2867083
ClinVar RCV Id:
RCV003700543
dbSNP Id:
rs2049409158
gnomAD v4:
X-19537778-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19537778C>T , CM000685.2:g.19537778C>T | GRCh38 |
| NC_000023.10:g.19555896C>T , CM000685.1:g.19555896C>T | GRCh37 |
| NC_000023.9:g.19465817C>T | NCBI36 |
| NG_021367.1:g.354849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379726.8:c.2027G>A | ENSP00000369049.4:p.Arg676Gln | |
| ENST00000494961.6:c.*1224G>A | ENSP00000514518.1:n.*1224G>A | |
| ENST00000699666.1:c.*607G>A | ENSP00000514509.1:n.*607G>A | |
| ENST00000699667.1:c.*1413G>A | ENSP00000514510.1:n.*1413G>A | |
| ENST00000699668.1:c.1970G>A | ENSP00000514511.1:p.Arg657Gln | |
| ENST00000699669.1:c.*1305G>A | ENSP00000514512.1:n.*1305G>A | |
| ENST00000699670.1:c.1898G>A | ENSP00000514513.1:p.Arg633Gln | |
| ENST00000699671.1:c.1841G>A | ENSP00000514514.1:p.Arg614Gln | |
| ENST00000699672.1:c.*1506G>A | ENSP00000514515.1:n.*1506G>A | |
| ENST00000699673.1:c.1766G>A | ENSP00000514516.1:p.Arg589Gln | |
| ENST00000699674.1:c.1664G>A | ENSP00000514517.1:p.Arg555Gln | |
| ENST00000699675.1:c.*1610G>A | ENSP00000514519.1:n.*1610G>A | |
| ENST00000699676.1:c.1629G>A | ENSP00000514520.1:p.Thr543= | |
| ENST00000699677.1:n.9776G>A | ||
| ENST00000699678.1:c.*930G>A | ENSP00000514521.1:n.*930G>A | |
| ENST00000699679.1:c.1968-1320G>A | ENSP00000514522.1:n.1968-1320G>A | |
| ENST00000699720.1:c.1721G>A | ENSP00000514710.1:p.Arg574Gln | |
| ENST00000699721.1:c.1232G>A | ENSP00000514544.1:p.Arg411Gln | |
| ENST00000699722.1:n.1823G>A | ||
| ENST00000699723.1:c.1784G>A | ENSP00000514545.1:p.Arg595Gln | |
| ENST00000699724.1:c.*1818G>A | ENSP00000514546.1:n.*1818G>A | |
| ENST00000699725.1:c.1850G>A | ENSP00000514547.1:p.Arg617Gln | |
| ENST00000699726.1:c.1793G>A | ENSP00000514711.1:p.Arg598Gln | |
| ENST00000699727.1:c.*1767G>A | ENSP00000514548.1:n.*1767G>A | |
| ENST00000699728.1:n.1814G>A | ||
| ENST00000699729.1:c.1589G>A | ENSP00000514549.1:p.Arg530Gln | |
| ENST00000699730.1:c.*1746G>A | ENSP00000514550.1:n.*1746G>A | |
| ENST00000699731.1:c.1571G>A | ENSP00000514551.1:p.Arg524Gln | |
| ENST00000699732.1:c.1664G>A | ENSP00000514712.1:p.Arg555Gln | |
| ENST00000699733.1:c.1664G>A | ENSP00000514713.1:p.Arg555Gln | |
| ENST00000699734.1:c.*1581G>A | ENSP00000514552.1:n.*1581G>A | |
| ENST00000699735.1:c.*1638G>A | ENSP00000514553.1:n.*1638G>A | |
| ENST00000699736.1:n.1188G>A | ||
| ENST00000699737.1:n.5203G>A | ||
| ENST00000699738.1:c.1052G>A | ENSP00000514555.1:p.Arg351Gln | |
| ENST00000699739.1:n.802G>A | ||
| ENST00000699740.1:n.896G>A | ||
| ENST00000699741.1:n.566G>A | ||
| ENST00000699742.1:c.1662-1320G>A | ENSP00000514714.1:n.1662-1320G>A | |
| ENST00000397821.8:c.1895G>A MANE Select | ENSP00000380921.3:p.Arg632Gln | |
| ENST00000379698.8:c.1784G>A | ENSP00000369020.4:p.Arg595Gln | |
| ENST00000379716.5:c.1181G>A | ENSP00000369039.1:p.Arg394Gln | |
| ENST00000379726.7:c.1835G>A | ENSP00000369049.3:p.Arg612Gln | |
| ENST00000397821.7:c.1895G>A | ENSP00000380921.3:p.Arg632Gln | |
| NM_001024666.2:c.1784G>A | NP_001019837.1:p.Arg595Gln | |
| NM_001184960.1:c.1181G>A | NP_001171889.1:p.Arg394Gln | |
| NM_031892.2:c.1895G>A | NP_114098.1:p.Arg632Gln | |
| XM_005274494.1:c.1970G>A | XP_005274551.1:p.Arg657Gln | |
| XM_011545498.1:c.2027G>A | XP_011543800.1:p.Arg676Gln | |
| XM_011545499.1:c.1916G>A | XP_011543801.1:p.Arg639Gln | |
| XM_011545500.1:c.1898G>A | XP_011543802.1:p.Arg633Gln | |
| XM_011545502.1:c.1232G>A | XP_011543804.1:p.Arg411Gln | |
| NM_001353890.1:c.1766G>A | NP_001340819.1:p.Arg589Gln | |
| NM_001353891.1:c.1970G>A | NP_001340820.1:p.Arg657Gln | |
| NM_001353892.1:c.1841G>A | NP_001340821.1:p.Arg614Gln | |
| NM_001353893.1:c.1793G>A | NP_001340822.1:p.Arg598Gln | |
| NM_001353894.1:c.1664G>A | NP_001340823.1:p.Arg555Gln | |
| NM_001353895.1:c.1721G>A | NP_001340824.1:p.Arg574Gln | |
| NM_001353897.1:c.1052G>A | NP_001340826.1:p.Arg351Gln | |
| XM_011545498.3:c.2027G>A | XP_011543800.1:p.Arg676Gln | |
| XM_011545499.3:c.1916G>A | XP_011543801.1:p.Arg639Gln | |
| XM_011545500.3:c.1898G>A | XP_011543802.1:p.Arg633Gln | |
| XM_011545502.2:c.1232G>A | XP_011543804.1:p.Arg411Gln | |
| XM_017029460.1:c.1904G>A | XP_016884949.1:p.Arg635Gln | |
| XM_017029461.1:c.1847G>A | XP_016884950.1:p.Arg616Gln | |
| XM_017029464.2:c.1775G>A | XP_016884953.1:p.Arg592Gln | |
| XM_017029465.2:c.1772G>A | XP_016884954.1:p.Arg591Gln | |
| XM_017029467.2:c.1718G>A | XP_016884956.1:p.Arg573Gln | |
| XM_017029468.2:c.1643G>A | XP_016884957.1:p.Arg548Gln | |
| XM_017029469.1:c.1112G>A | XP_016884958.1:p.Arg371Gln | |
| NM_031892.3:c.1895G>A MANE Select | NP_114098.1:p.Arg632Gln | |
| NM_001024666.3:c.1784G>A | NP_001019837.1:p.Arg595Gln | |
| NM_001184960.2:c.1181G>A | NP_001171889.1:p.Arg394Gln | |
| NM_001353890.2:c.1766G>A | NP_001340819.1:p.Arg589Gln | |
| NM_001353891.2:c.1970G>A | NP_001340820.1:p.Arg657Gln | |
| NM_001353892.2:c.1841G>A | NP_001340821.1:p.Arg614Gln | |
| NM_001353897.2:c.1052G>A | NP_001340826.1:p.Arg351Gln | |
| NM_001353893.2:c.1793G>A | NP_001340822.1:p.Arg598Gln | |
| NM_001353894.2:c.1664G>A | NP_001340823.1:p.Arg555Gln | |
| NM_001353895.2:c.1721G>A | NP_001340824.1:p.Arg574Gln |