Linked Data
ClinVar Variation Id:
1958327
ClinVar RCV Id:
RCV002725439
dbSNP Id:
rs1023574219
gnomAD v3:
X-19545973-G-A
gnomAD v4:
X-19545973-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19545973G>A , CM000685.2:g.19545973G>A | GRCh38 |
| NC_000023.10:g.19564091G>A , CM000685.1:g.19564091G>A | GRCh37 |
| NC_000023.9:g.19474012G>A | NCBI36 |
| NG_021367.1:g.346654C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379726.8:c.1704C>T | ENSP00000369049.4:p.His568= | |
| ENST00000494961.6:c.*953-3780C>T | ENSP00000514518.1:n.*953-3780C>T | |
| ENST00000699666.1:c.*284C>T | ENSP00000514509.1:n.*284C>T | |
| ENST00000699667.1:c.*1090C>T | ENSP00000514510.1:n.*1090C>T | |
| ENST00000699668.1:c.1647C>T | ENSP00000514511.1:p.His549= | |
| ENST00000699669.1:c.*1034-3780C>T | ENSP00000514512.1:n.*1034-3780C>T | |
| ENST00000699670.1:c.1627-3780C>T | ENSP00000514513.1:n.1627-3780C>T | |
| ENST00000699671.1:c.1570-3780C>T | ENSP00000514514.1:n.1570-3780C>T | |
| ENST00000699672.1:c.*1235-3780C>T | ENSP00000514515.1:n.*1235-3780C>T | |
| ENST00000699673.1:c.1495-3780C>T | ENSP00000514516.1:n.1495-3780C>T | |
| ENST00000699674.1:c.1393-3780C>T | ENSP00000514517.1:n.1393-3780C>T | |
| ENST00000699675.1:c.*1339-3780C>T | ENSP00000514519.1:n.*1339-3780C>T | |
| ENST00000699676.1:c.1626+4001C>T | ENSP00000514520.1:n.1626+4001C>T | |
| ENST00000699677.1:n.5725C>T | ||
| ENST00000699678.1:c.*659-3780C>T | ENSP00000514521.1:n.*659-3780C>T | |
| ENST00000699679.1:c.1647C>T | ENSP00000514522.1:p.His549= | |
| ENST00000699720.1:c.1450-3780C>T | ENSP00000514710.1:n.1450-3780C>T | |
| ENST00000699721.1:c.909C>T | ENSP00000514544.1:p.His303= | |
| ENST00000699722.1:n.1500C>T | ||
| ENST00000699723.1:c.1461C>T | ENSP00000514545.1:p.His487= | |
| ENST00000699724.1:c.*1495C>T | ENSP00000514546.1:n.*1495C>T | |
| ENST00000699725.1:c.1527C>T | ENSP00000514547.1:p.His509= | |
| ENST00000699726.1:c.1470C>T | ENSP00000514711.1:p.His490= | |
| ENST00000699727.1:c.*1444C>T | ENSP00000514548.1:n.*1444C>T | |
| ENST00000699728.1:n.1543-3780C>T | ||
| ENST00000699729.1:c.1318-3780C>T | ENSP00000514549.1:n.1318-3780C>T | |
| ENST00000699730.1:c.*1475-3780C>T | ENSP00000514550.1:n.*1475-3780C>T | |
| ENST00000699731.1:c.1300-3780C>T | ENSP00000514551.1:n.1300-3780C>T | |
| ENST00000699732.1:c.1393-3780C>T | ENSP00000514712.1:n.1393-3780C>T | |
| ENST00000699733.1:c.1393-3780C>T | ENSP00000514713.1:n.1393-3780C>T | |
| ENST00000699734.1:c.*1310-3780C>T | ENSP00000514552.1:n.*1310-3780C>T | |
| ENST00000699735.1:c.*1367-3780C>T | ENSP00000514553.1:n.*1367-3780C>T | |
| ENST00000699736.1:n.917-3780C>T | ||
| ENST00000699737.1:n.4880C>T | ||
| ENST00000699738.1:c.781-3780C>T | ENSP00000514555.1:n.781-3780C>T | |
| ENST00000699739.1:n.531-3780C>T | ||
| ENST00000699740.1:n.573C>T | ||
| ENST00000699741.1:n.512C>T | ||
| ENST00000699742.1:c.1393-3780C>T | ENSP00000514714.1:n.1393-3780C>T | |
| ENST00000397821.8:c.1572C>T MANE Select | ENSP00000380921.3:p.His524= | |
| ENST00000379698.8:c.1461C>T | ENSP00000369020.4:p.His487= | |
| ENST00000379716.5:c.858C>T | ENSP00000369039.1:p.His286= | |
| ENST00000379726.7:c.1512C>T | ENSP00000369049.3:p.His504= | |
| ENST00000397821.7:c.1572C>T | ENSP00000380921.3:p.His524= | |
| NM_001024666.2:c.1461C>T | NP_001019837.1:p.His487= | |
| NM_001184960.1:c.858C>T | NP_001171889.1:p.His286= | |
| NM_031892.2:c.1572C>T | NP_114098.1:p.His524= | |
| XM_005274494.1:c.1647C>T | XP_005274551.1:p.His549= | |
| XM_011545498.1:c.1704C>T | XP_011543800.1:p.His568= | |
| XM_011545499.1:c.1593C>T | XP_011543801.1:p.His531= | |
| XM_011545500.1:c.1627-3780C>T | XP_011543802.1:n.1627-3780C>T | |
| XM_011545502.1:c.909C>T | XP_011543804.1:p.His303= | |
| NM_001353890.1:c.1495-3780C>T | NP_001340819.1:n.1495-3780C>T | |
| NM_001353891.1:c.1647C>T | NP_001340820.1:p.His549= | |
| NM_001353892.1:c.1570-3780C>T | NP_001340821.1:n.1570-3780C>T | |
| NM_001353893.1:c.1470C>T | NP_001340822.1:p.His490= | |
| NM_001353894.1:c.1393-3780C>T | NP_001340823.1:n.1393-3780C>T | |
| NM_001353895.1:c.1450-3780C>T | NP_001340824.1:n.1450-3780C>T | |
| NM_001353897.1:c.781-3780C>T | NP_001340826.1:n.781-3780C>T | |
| XM_011545498.3:c.1704C>T | XP_011543800.1:p.His568= | |
| XM_011545499.3:c.1593C>T | XP_011543801.1:p.His531= | |
| XM_011545500.3:c.1627-3780C>T | XP_011543802.1:n.1627-3780C>T | |
| XM_011545502.2:c.909C>T | XP_011543804.1:p.His303= | |
| XM_017029460.1:c.1581C>T | XP_016884949.1:p.His527= | |
| XM_017029461.1:c.1524C>T | XP_016884950.1:p.His508= | |
| XM_017029464.2:c.1504-3780C>T | XP_016884953.1:n.1504-3780C>T | |
| XM_017029465.2:c.1449C>T | XP_016884954.1:p.His483= | |
| XM_017029467.2:c.1447-3780C>T | XP_016884956.1:n.1447-3780C>T | |
| XM_017029468.2:c.1372-3780C>T | XP_016884957.1:n.1372-3780C>T | |
| XM_017029469.1:c.789C>T | XP_016884958.1:p.His263= | |
| NM_031892.3:c.1572C>T MANE Select | NP_114098.1:p.His524= | |
| NM_001024666.3:c.1461C>T | NP_001019837.1:p.His487= | |
| NM_001184960.2:c.858C>T | NP_001171889.1:p.His286= | |
| NM_001353890.2:c.1495-3780C>T | NP_001340819.1:n.1495-3780C>T | |
| NM_001353891.2:c.1647C>T | NP_001340820.1:p.His549= | |
| NM_001353892.2:c.1570-3780C>T | NP_001340821.1:n.1570-3780C>T | |
| NM_001353897.2:c.781-3780C>T | NP_001340826.1:n.781-3780C>T | |
| NM_001353893.2:c.1470C>T | NP_001340822.1:p.His490= | |
| NM_001353894.2:c.1393-3780C>T | NP_001340823.1:n.1393-3780C>T | |
| NM_001353895.2:c.1450-3780C>T | NP_001340824.1:n.1450-3780C>T |