Linked Data
ClinVar Variation Id:
1938186
ClinVar RCV Id:
RCV002646224
dbSNP Id:
rs747153720
ExAC:
X:19555825 A / G
gnomAD v2:
X-19555825-A-G
gnomAD v3:
X-19537707-A-G
gnomAD v4:
X-19537707-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19537707A>G , CM000685.2:g.19537707A>G | GRCh38 |
| NC_000023.10:g.19555825A>G , CM000685.1:g.19555825A>G | GRCh37 |
| NC_000023.9:g.19465746A>G | NCBI36 |
| NG_021367.1:g.354920T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379726.8:c.2088+10T>C | ENSP00000369049.4:n.2088+10T>C | |
| ENST00000494961.6:c.*1285+10T>C | ENSP00000514518.1:n.*1285+10T>C | |
| ENST00000699666.1:c.*668+10T>C | ENSP00000514509.1:n.*668+10T>C | |
| ENST00000699667.1:c.*1474+10T>C | ENSP00000514510.1:n.*1474+10T>C | |
| ENST00000699668.1:c.2031+10T>C | ENSP00000514511.1:n.2031+10T>C | |
| ENST00000699669.1:c.*1366+10T>C | ENSP00000514512.1:n.*1366+10T>C | |
| ENST00000699670.1:c.1959+10T>C | ENSP00000514513.1:n.1959+10T>C | |
| ENST00000699671.1:c.1902+10T>C | ENSP00000514514.1:n.1902+10T>C | |
| ENST00000699672.1:c.*1567+10T>C | ENSP00000514515.1:n.*1567+10T>C | |
| ENST00000699673.1:c.1827+10T>C | ENSP00000514516.1:n.1827+10T>C | |
| ENST00000699674.1:c.1725+10T>C | ENSP00000514517.1:n.1725+10T>C | |
| ENST00000699675.1:c.*1671+10T>C | ENSP00000514519.1:n.*1671+10T>C | |
| ENST00000699676.1:c.*52+10T>C | ENSP00000514520.1:n.*52+10T>C | |
| ENST00000699677.1:n.9837+10T>C | ||
| ENST00000699678.1:c.*991+10T>C | ENSP00000514521.1:n.*991+10T>C | |
| ENST00000699679.1:c.1968-1249T>C | ENSP00000514522.1:n.1968-1249T>C | |
| ENST00000699720.1:c.1782+10T>C | ENSP00000514710.1:n.1782+10T>C | |
| ENST00000699721.1:c.1293+10T>C | ENSP00000514544.1:n.1293+10T>C | |
| ENST00000699722.1:n.1884+10T>C | ||
| ENST00000699723.1:c.1845+10T>C | ENSP00000514545.1:n.1845+10T>C | |
| ENST00000699724.1:c.*1879+10T>C | ENSP00000514546.1:n.*1879+10T>C | |
| ENST00000699725.1:c.1911+10T>C | ENSP00000514547.1:n.1911+10T>C | |
| ENST00000699726.1:c.1854+10T>C | ENSP00000514711.1:n.1854+10T>C | |
| ENST00000699727.1:c.*1828+10T>C | ENSP00000514548.1:n.*1828+10T>C | |
| ENST00000699728.1:n.1875+10T>C | ||
| ENST00000699729.1:c.1650+10T>C | ENSP00000514549.1:n.1650+10T>C | |
| ENST00000699730.1:c.*1807+10T>C | ENSP00000514550.1:n.*1807+10T>C | |
| ENST00000699731.1:c.1632+10T>C | ENSP00000514551.1:n.1632+10T>C | |
| ENST00000699732.1:c.1725+10T>C | ENSP00000514712.1:n.1725+10T>C | |
| ENST00000699733.1:c.1725+10T>C | ENSP00000514713.1:n.1725+10T>C | |
| ENST00000699734.1:c.*1642+10T>C | ENSP00000514552.1:n.*1642+10T>C | |
| ENST00000699735.1:c.*1699+10T>C | ENSP00000514553.1:n.*1699+10T>C | |
| ENST00000699736.1:n.1249+10T>C | ||
| ENST00000699737.1:n.5264+10T>C | ||
| ENST00000699738.1:c.1113+10T>C | ENSP00000514555.1:n.1113+10T>C | |
| ENST00000699739.1:n.863+10T>C | ||
| ENST00000699740.1:n.957+10T>C | ||
| ENST00000699741.1:n.627+10T>C | ||
| ENST00000699742.1:c.1662-1249T>C | ENSP00000514714.1:n.1662-1249T>C | |
| ENST00000397821.8:c.1956+10T>C MANE Select | ENSP00000380921.3:n.1956+10T>C | |
| ENST00000379698.8:c.1845+10T>C | ENSP00000369020.4:n.1845+10T>C | |
| ENST00000379716.5:c.1242+10T>C | ENSP00000369039.1:n.1242+10T>C | |
| ENST00000379726.7:c.1896+10T>C | ENSP00000369049.3:n.1896+10T>C | |
| ENST00000397821.7:c.1956+10T>C | ENSP00000380921.3:n.1956+10T>C | |
| NM_001024666.2:c.1845+10T>C | NP_001019837.1:n.1845+10T>C | |
| NM_001184960.1:c.1242+10T>C | NP_001171889.1:n.1242+10T>C | |
| NM_031892.2:c.1956+10T>C | NP_114098.1:n.1956+10T>C | |
| XM_005274494.1:c.2031+10T>C | XP_005274551.1:n.2031+10T>C | |
| XM_011545498.1:c.2088+10T>C | XP_011543800.1:n.2088+10T>C | |
| XM_011545499.1:c.1977+10T>C | XP_011543801.1:n.1977+10T>C | |
| XM_011545500.1:c.1959+10T>C | XP_011543802.1:n.1959+10T>C | |
| XM_011545502.1:c.1293+10T>C | XP_011543804.1:n.1293+10T>C | |
| NM_001353890.1:c.1827+10T>C | NP_001340819.1:n.1827+10T>C | |
| NM_001353891.1:c.2031+10T>C | NP_001340820.1:n.2031+10T>C | |
| NM_001353892.1:c.1902+10T>C | NP_001340821.1:n.1902+10T>C | |
| NM_001353893.1:c.1854+10T>C | NP_001340822.1:n.1854+10T>C | |
| NM_001353894.1:c.1725+10T>C | NP_001340823.1:n.1725+10T>C | |
| NM_001353895.1:c.1782+10T>C | NP_001340824.1:n.1782+10T>C | |
| NM_001353897.1:c.1113+10T>C | NP_001340826.1:n.1113+10T>C | |
| XM_011545498.3:c.2088+10T>C | XP_011543800.1:n.2088+10T>C | |
| XM_011545499.3:c.1977+10T>C | XP_011543801.1:n.1977+10T>C | |
| XM_011545500.3:c.1959+10T>C | XP_011543802.1:n.1959+10T>C | |
| XM_011545502.2:c.1293+10T>C | XP_011543804.1:n.1293+10T>C | |
| XM_017029460.1:c.1965+10T>C | XP_016884949.1:n.1965+10T>C | |
| XM_017029461.1:c.1908+10T>C | XP_016884950.1:n.1908+10T>C | |
| XM_017029464.2:c.1836+10T>C | XP_016884953.1:n.1836+10T>C | |
| XM_017029465.2:c.1833+10T>C | XP_016884954.1:n.1833+10T>C | |
| XM_017029467.2:c.1779+10T>C | XP_016884956.1:n.1779+10T>C | |
| XM_017029468.2:c.1704+10T>C | XP_016884957.1:n.1704+10T>C | |
| XM_017029469.1:c.1173+10T>C | XP_016884958.1:n.1173+10T>C | |
| NM_031892.3:c.1956+10T>C MANE Select | NP_114098.1:n.1956+10T>C | |
| NM_001024666.3:c.1845+10T>C | NP_001019837.1:n.1845+10T>C | |
| NM_001184960.2:c.1242+10T>C | NP_001171889.1:n.1242+10T>C | |
| NM_001353890.2:c.1827+10T>C | NP_001340819.1:n.1827+10T>C | |
| NM_001353891.2:c.2031+10T>C | NP_001340820.1:n.2031+10T>C | |
| NM_001353892.2:c.1902+10T>C | NP_001340821.1:n.1902+10T>C | |
| NM_001353897.2:c.1113+10T>C | NP_001340826.1:n.1113+10T>C | |
| NM_001353893.2:c.1854+10T>C | NP_001340822.1:n.1854+10T>C | |
| NM_001353894.2:c.1725+10T>C | NP_001340823.1:n.1725+10T>C | |
| NM_001353895.2:c.1782+10T>C | NP_001340824.1:n.1782+10T>C |