Linked Data
ClinVar Variation Id:
1547827
ClinVar RCV Id:
RCV002177479
dbSNP Id:
rs373915090
ExAC:
X:19554592 T / C
gnomAD v2:
X-19554592-T-C
gnomAD v3:
X-19536474-T-C
gnomAD v4:
X-19536474-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19536474T>C , CM000685.2:g.19536474T>C | GRCh38 |
| NC_000023.10:g.19554592T>C , CM000685.1:g.19554592T>C | GRCh37 |
| NC_000023.9:g.19464513T>C | NCBI36 |
| NG_021367.1:g.356153A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379726.8:c.2089-16A>G | ENSP00000369049.4:n.2089-16A>G | |
| ENST00000494961.6:c.*1286-16A>G | ENSP00000514518.1:n.*1286-16A>G | |
| ENST00000699666.1:c.*669-16A>G | ENSP00000514509.1:n.*669-16A>G | |
| ENST00000699667.1:c.*1475-16A>G | ENSP00000514510.1:n.*1475-16A>G | |
| ENST00000699668.1:c.2032-16A>G | ENSP00000514511.1:n.2032-16A>G | |
| ENST00000699669.1:c.*1367-16A>G | ENSP00000514512.1:n.*1367-16A>G | |
| ENST00000699670.1:c.1960-16A>G | ENSP00000514513.1:n.1960-16A>G | |
| ENST00000699671.1:c.1903-16A>G | ENSP00000514514.1:n.1903-16A>G | |
| ENST00000699672.1:c.*1568-16A>G | ENSP00000514515.1:n.*1568-16A>G | |
| ENST00000699673.1:c.1828-16A>G | ENSP00000514516.1:n.1828-16A>G | |
| ENST00000699674.1:c.1726-16A>G | ENSP00000514517.1:n.1726-16A>G | |
| ENST00000699675.1:c.*1672-16A>G | ENSP00000514519.1:n.*1672-16A>G | |
| ENST00000699676.1:c.*53-16A>G | ENSP00000514520.1:n.*53-16A>G | |
| ENST00000699677.1:n.9838-16A>G | ||
| ENST00000699678.1:c.*992-16A>G | ENSP00000514521.1:n.*992-16A>G | |
| ENST00000699679.1:c.1968-16A>G | ENSP00000514522.1:n.1968-16A>G | |
| ENST00000699720.1:c.1783-16A>G | ENSP00000514710.1:n.1783-16A>G | |
| ENST00000699721.1:c.1294-16A>G | ENSP00000514544.1:n.1294-16A>G | |
| ENST00000699722.1:n.1885-16A>G | ||
| ENST00000699723.1:c.1846-16A>G | ENSP00000514545.1:n.1846-16A>G | |
| ENST00000699724.1:c.*1880-16A>G | ENSP00000514546.1:n.*1880-16A>G | |
| ENST00000699725.1:c.1912-16A>G | ENSP00000514547.1:n.1912-16A>G | |
| ENST00000699726.1:c.1855-16A>G | ENSP00000514711.1:n.1855-16A>G | |
| ENST00000699727.1:c.*1829-16A>G | ENSP00000514548.1:n.*1829-16A>G | |
| ENST00000699728.1:n.1876-16A>G | ||
| ENST00000699729.1:c.1651-16A>G | ENSP00000514549.1:n.1651-16A>G | |
| ENST00000699730.1:c.*1808-16A>G | ENSP00000514550.1:n.*1808-16A>G | |
| ENST00000699731.1:c.1633-16A>G | ENSP00000514551.1:n.1633-16A>G | |
| ENST00000699732.1:c.1726-16A>G | ENSP00000514712.1:n.1726-16A>G | |
| ENST00000699733.1:c.1726-16A>G | ENSP00000514713.1:n.1726-16A>G | |
| ENST00000699734.1:c.*1643-16A>G | ENSP00000514552.1:n.*1643-16A>G | |
| ENST00000699735.1:c.*1700-16A>G | ENSP00000514553.1:n.*1700-16A>G | |
| ENST00000699736.1:n.1250-16A>G | ||
| ENST00000699737.1:n.5265-16A>G | ||
| ENST00000699738.1:c.1114-16A>G | ENSP00000514555.1:n.1114-16A>G | |
| ENST00000699739.1:n.864-16A>G | ||
| ENST00000699740.1:n.958-16A>G | ||
| ENST00000699741.1:n.628-16A>G | ||
| ENST00000699742.1:c.1662-16A>G | ENSP00000514714.1:n.1662-16A>G | |
| ENST00000397821.8:c.1957-16A>G MANE Select | ENSP00000380921.3:n.1957-16A>G | |
| ENST00000379698.8:c.1846-16A>G | ENSP00000369020.4:n.1846-16A>G | |
| ENST00000379716.5:c.1243-16A>G | ENSP00000369039.1:n.1243-16A>G | |
| ENST00000379726.7:c.1897-16A>G | ENSP00000369049.3:n.1897-16A>G | |
| ENST00000397821.7:c.1957-16A>G | ENSP00000380921.3:n.1957-16A>G | |
| NM_001024666.2:c.1846-16A>G | NP_001019837.1:n.1846-16A>G | |
| NM_001184960.1:c.1243-16A>G | NP_001171889.1:n.1243-16A>G | |
| NM_031892.2:c.1957-16A>G | NP_114098.1:n.1957-16A>G | |
| XM_005274494.1:c.2032-16A>G | XP_005274551.1:n.2032-16A>G | |
| XM_011545498.1:c.2089-16A>G | XP_011543800.1:n.2089-16A>G | |
| XM_011545499.1:c.1978-16A>G | XP_011543801.1:n.1978-16A>G | |
| XM_011545500.1:c.1960-16A>G | XP_011543802.1:n.1960-16A>G | |
| XM_011545502.1:c.1294-16A>G | XP_011543804.1:n.1294-16A>G | |
| NM_001353890.1:c.1828-16A>G | NP_001340819.1:n.1828-16A>G | |
| NM_001353891.1:c.2032-16A>G | NP_001340820.1:n.2032-16A>G | |
| NM_001353892.1:c.1903-16A>G | NP_001340821.1:n.1903-16A>G | |
| NM_001353893.1:c.1855-16A>G | NP_001340822.1:n.1855-16A>G | |
| NM_001353894.1:c.1726-16A>G | NP_001340823.1:n.1726-16A>G | |
| NM_001353895.1:c.1783-16A>G | NP_001340824.1:n.1783-16A>G | |
| NM_001353897.1:c.1114-16A>G | NP_001340826.1:n.1114-16A>G | |
| XM_011545498.3:c.2089-16A>G | XP_011543800.1:n.2089-16A>G | |
| XM_011545499.3:c.1978-16A>G | XP_011543801.1:n.1978-16A>G | |
| XM_011545500.3:c.1960-16A>G | XP_011543802.1:n.1960-16A>G | |
| XM_011545502.2:c.1294-16A>G | XP_011543804.1:n.1294-16A>G | |
| XM_017029460.1:c.1966-16A>G | XP_016884949.1:n.1966-16A>G | |
| XM_017029461.1:c.1909-16A>G | XP_016884950.1:n.1909-16A>G | |
| XM_017029464.2:c.1837-16A>G | XP_016884953.1:n.1837-16A>G | |
| XM_017029465.2:c.1834-16A>G | XP_016884954.1:n.1834-16A>G | |
| XM_017029467.2:c.1780-16A>G | XP_016884956.1:n.1780-16A>G | |
| XM_017029468.2:c.1705-16A>G | XP_016884957.1:n.1705-16A>G | |
| XM_017029469.1:c.1174-16A>G | XP_016884958.1:n.1174-16A>G | |
| NM_031892.3:c.1957-16A>G MANE Select | NP_114098.1:n.1957-16A>G | |
| NM_001024666.3:c.1846-16A>G | NP_001019837.1:n.1846-16A>G | |
| NM_001184960.2:c.1243-16A>G | NP_001171889.1:n.1243-16A>G | |
| NM_001353890.2:c.1828-16A>G | NP_001340819.1:n.1828-16A>G | |
| NM_001353891.2:c.2032-16A>G | NP_001340820.1:n.2032-16A>G | |
| NM_001353892.2:c.1903-16A>G | NP_001340821.1:n.1903-16A>G | |
| NM_001353897.2:c.1114-16A>G | NP_001340826.1:n.1114-16A>G | |
| NM_001353893.2:c.1855-16A>G | NP_001340822.1:n.1855-16A>G | |
| NM_001353894.2:c.1726-16A>G | NP_001340823.1:n.1726-16A>G | |
| NM_001353895.2:c.1783-16A>G | NP_001340824.1:n.1783-16A>G |