Linked Data
ClinVar Variation Id:
1628402
ClinVar RCV Id:
RCV002125254
dbSNP Id:
rs781779718
ExAC:
X:19560028 T / A
gnomAD v2:
X-19560028-T-A
gnomAD v3:
X-19541910-T-A
gnomAD v4:
X-19541910-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19541910T>A , CM000685.2:g.19541910T>A | GRCh38 |
| NC_000023.10:g.19560028T>A , CM000685.1:g.19560028T>A | GRCh37 |
| NC_000023.9:g.19469949T>A | NCBI36 |
| NG_021367.1:g.350717A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379726.8:c.2024+15A>T | ENSP00000369049.4:n.2024+15A>T | |
| ENST00000494961.6:c.*1221+15A>T | ENSP00000514518.1:n.*1221+15A>T | |
| ENST00000699666.1:c.*604+15A>T | ENSP00000514509.1:n.*604+15A>T | |
| ENST00000699667.1:c.*1410+15A>T | ENSP00000514510.1:n.*1410+15A>T | |
| ENST00000699668.1:c.1967+15A>T | ENSP00000514511.1:n.1967+15A>T | |
| ENST00000699669.1:c.*1302+15A>T | ENSP00000514512.1:n.*1302+15A>T | |
| ENST00000699670.1:c.1895+15A>T | ENSP00000514513.1:n.1895+15A>T | |
| ENST00000699671.1:c.1838+15A>T | ENSP00000514514.1:n.1838+15A>T | |
| ENST00000699672.1:c.*1503+15A>T | ENSP00000514515.1:n.*1503+15A>T | |
| ENST00000699673.1:c.1763+15A>T | ENSP00000514516.1:n.1763+15A>T | |
| ENST00000699674.1:c.1661+15A>T | ENSP00000514517.1:n.1661+15A>T | |
| ENST00000699675.1:c.*1607+15A>T | ENSP00000514519.1:n.*1607+15A>T | |
| ENST00000699676.1:c.1627-4130A>T | ENSP00000514520.1:n.1627-4130A>T | |
| ENST00000699677.1:n.9773+15A>T | ||
| ENST00000699678.1:c.*927+15A>T | ENSP00000514521.1:n.*927+15A>T | |
| ENST00000699679.1:c.1967+15A>T | ENSP00000514522.1:n.1967+15A>T | |
| ENST00000699720.1:c.1718+15A>T | ENSP00000514710.1:n.1718+15A>T | |
| ENST00000699721.1:c.1229+15A>T | ENSP00000514544.1:n.1229+15A>T | |
| ENST00000699722.1:n.1820+15A>T | ||
| ENST00000699723.1:c.1781+15A>T | ENSP00000514545.1:n.1781+15A>T | |
| ENST00000699724.1:c.*1815+15A>T | ENSP00000514546.1:n.*1815+15A>T | |
| ENST00000699725.1:c.1847+15A>T | ENSP00000514547.1:n.1847+15A>T | |
| ENST00000699726.1:c.1790+15A>T | ENSP00000514711.1:n.1790+15A>T | |
| ENST00000699727.1:c.*1764+15A>T | ENSP00000514548.1:n.*1764+15A>T | |
| ENST00000699728.1:n.1811+15A>T | ||
| ENST00000699729.1:c.1586+15A>T | ENSP00000514549.1:n.1586+15A>T | |
| ENST00000699730.1:c.*1743+15A>T | ENSP00000514550.1:n.*1743+15A>T | |
| ENST00000699731.1:c.1568+15A>T | ENSP00000514551.1:n.1568+15A>T | |
| ENST00000699732.1:c.1661+15A>T | ENSP00000514712.1:n.1661+15A>T | |
| ENST00000699733.1:c.1661+15A>T | ENSP00000514713.1:n.1661+15A>T | |
| ENST00000699734.1:c.*1578+15A>T | ENSP00000514552.1:n.*1578+15A>T | |
| ENST00000699735.1:c.*1635+15A>T | ENSP00000514553.1:n.*1635+15A>T | |
| ENST00000699736.1:n.1185+15A>T | ||
| ENST00000699737.1:n.5200+15A>T | ||
| ENST00000699738.1:c.1049+15A>T | ENSP00000514555.1:n.1049+15A>T | |
| ENST00000699739.1:n.799+15A>T | ||
| ENST00000699740.1:n.893+15A>T | ||
| ENST00000699741.1:n.563+4012A>T | ||
| ENST00000699742.1:c.1661+15A>T | ENSP00000514714.1:n.1661+15A>T | |
| ENST00000397821.8:c.1892+15A>T MANE Select | ENSP00000380921.3:n.1892+15A>T | |
| ENST00000379698.8:c.1781+15A>T | ENSP00000369020.4:n.1781+15A>T | |
| ENST00000379716.5:c.1178+15A>T | ENSP00000369039.1:n.1178+15A>T | |
| ENST00000379726.7:c.1832+15A>T | ENSP00000369049.3:n.1832+15A>T | |
| ENST00000397821.7:c.1892+15A>T | ENSP00000380921.3:n.1892+15A>T | |
| NM_001024666.2:c.1781+15A>T | NP_001019837.1:n.1781+15A>T | |
| NM_001184960.1:c.1178+15A>T | NP_001171889.1:n.1178+15A>T | |
| NM_031892.2:c.1892+15A>T | NP_114098.1:n.1892+15A>T | |
| XM_005274494.1:c.1967+15A>T | XP_005274551.1:n.1967+15A>T | |
| XM_011545498.1:c.2024+15A>T | XP_011543800.1:n.2024+15A>T | |
| XM_011545499.1:c.1913+15A>T | XP_011543801.1:n.1913+15A>T | |
| XM_011545500.1:c.1895+15A>T | XP_011543802.1:n.1895+15A>T | |
| XM_011545502.1:c.1229+15A>T | XP_011543804.1:n.1229+15A>T | |
| NM_001353890.1:c.1763+15A>T | NP_001340819.1:n.1763+15A>T | |
| NM_001353891.1:c.1967+15A>T | NP_001340820.1:n.1967+15A>T | |
| NM_001353892.1:c.1838+15A>T | NP_001340821.1:n.1838+15A>T | |
| NM_001353893.1:c.1790+15A>T | NP_001340822.1:n.1790+15A>T | |
| NM_001353894.1:c.1661+15A>T | NP_001340823.1:n.1661+15A>T | |
| NM_001353895.1:c.1718+15A>T | NP_001340824.1:n.1718+15A>T | |
| NM_001353897.1:c.1049+15A>T | NP_001340826.1:n.1049+15A>T | |
| XM_011545498.3:c.2024+15A>T | XP_011543800.1:n.2024+15A>T | |
| XM_011545499.3:c.1913+15A>T | XP_011543801.1:n.1913+15A>T | |
| XM_011545500.3:c.1895+15A>T | XP_011543802.1:n.1895+15A>T | |
| XM_011545502.2:c.1229+15A>T | XP_011543804.1:n.1229+15A>T | |
| XM_017029460.1:c.1901+15A>T | XP_016884949.1:n.1901+15A>T | |
| XM_017029461.1:c.1844+15A>T | XP_016884950.1:n.1844+15A>T | |
| XM_017029464.2:c.1772+15A>T | XP_016884953.1:n.1772+15A>T | |
| XM_017029465.2:c.1769+15A>T | XP_016884954.1:n.1769+15A>T | |
| XM_017029467.2:c.1715+15A>T | XP_016884956.1:n.1715+15A>T | |
| XM_017029468.2:c.1640+15A>T | XP_016884957.1:n.1640+15A>T | |
| XM_017029469.1:c.1109+15A>T | XP_016884958.1:n.1109+15A>T | |
| NM_031892.3:c.1892+15A>T MANE Select | NP_114098.1:n.1892+15A>T | |
| NM_001024666.3:c.1781+15A>T | NP_001019837.1:n.1781+15A>T | |
| NM_001184960.2:c.1178+15A>T | NP_001171889.1:n.1178+15A>T | |
| NM_001353890.2:c.1763+15A>T | NP_001340819.1:n.1763+15A>T | |
| NM_001353891.2:c.1967+15A>T | NP_001340820.1:n.1967+15A>T | |
| NM_001353892.2:c.1838+15A>T | NP_001340821.1:n.1838+15A>T | |
| NM_001353897.2:c.1049+15A>T | NP_001340826.1:n.1049+15A>T | |
| NM_001353893.2:c.1790+15A>T | NP_001340822.1:n.1790+15A>T | |
| NM_001353894.2:c.1661+15A>T | NP_001340823.1:n.1661+15A>T | |
| NM_001353895.2:c.1718+15A>T | NP_001340824.1:n.1718+15A>T |