Linked Data
ClinVar Variation Id:
1642644
ClinVar RCV Id:
RCV002143442
dbSNP Id:
rs200949699
ExAC:
X:19560171 C / T
gnomAD v2:
X-19560171-C-T
gnomAD v3:
X-19542053-C-T
gnomAD v4:
X-19542053-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19542053C>T , CM000685.2:g.19542053C>T | GRCh38 |
| NC_000023.10:g.19560171C>T , CM000685.1:g.19560171C>T | GRCh37 |
| NC_000023.9:g.19470092C>T | NCBI36 |
| NG_021367.1:g.350574G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379726.8:c.1896G>A | ENSP00000369049.4:p.Pro632= | |
| ENST00000494961.6:c.*1093G>A | ENSP00000514518.1:n.*1093G>A | |
| ENST00000699666.1:c.*476G>A | ENSP00000514509.1:n.*476G>A | |
| ENST00000699667.1:c.*1282G>A | ENSP00000514510.1:n.*1282G>A | |
| ENST00000699668.1:c.1839G>A | ENSP00000514511.1:p.Pro613= | |
| ENST00000699669.1:c.*1174G>A | ENSP00000514512.1:n.*1174G>A | |
| ENST00000699670.1:c.1767G>A | ENSP00000514513.1:p.Pro589= | |
| ENST00000699671.1:c.1710G>A | ENSP00000514514.1:p.Pro570= | |
| ENST00000699672.1:c.*1375G>A | ENSP00000514515.1:n.*1375G>A | |
| ENST00000699673.1:c.1635G>A | ENSP00000514516.1:p.Pro545= | |
| ENST00000699674.1:c.1533G>A | ENSP00000514517.1:p.Pro511= | |
| ENST00000699675.1:c.*1479G>A | ENSP00000514519.1:n.*1479G>A | |
| ENST00000699676.1:c.1627-4273G>A | ENSP00000514520.1:n.1627-4273G>A | |
| ENST00000699677.1:n.9645G>A | ||
| ENST00000699678.1:c.*799G>A | ENSP00000514521.1:n.*799G>A | |
| ENST00000699679.1:c.1839G>A | ENSP00000514522.1:p.Pro613= | |
| ENST00000699720.1:c.1590G>A | ENSP00000514710.1:p.Pro530= | |
| ENST00000699721.1:c.1101G>A | ENSP00000514544.1:p.Pro367= | |
| ENST00000699722.1:n.1692G>A | ||
| ENST00000699723.1:c.1653G>A | ENSP00000514545.1:p.Pro551= | |
| ENST00000699724.1:c.*1687G>A | ENSP00000514546.1:n.*1687G>A | |
| ENST00000699725.1:c.1719G>A | ENSP00000514547.1:p.Pro573= | |
| ENST00000699726.1:c.1662G>A | ENSP00000514711.1:p.Pro554= | |
| ENST00000699727.1:c.*1636G>A | ENSP00000514548.1:n.*1636G>A | |
| ENST00000699728.1:n.1683G>A | ||
| ENST00000699729.1:c.1458G>A | ENSP00000514549.1:p.Pro486= | |
| ENST00000699730.1:c.*1615G>A | ENSP00000514550.1:n.*1615G>A | |
| ENST00000699731.1:c.1440G>A | ENSP00000514551.1:p.Pro480= | |
| ENST00000699732.1:c.1533G>A | ENSP00000514712.1:p.Pro511= | |
| ENST00000699733.1:c.1533G>A | ENSP00000514713.1:p.Pro511= | |
| ENST00000699734.1:c.*1450G>A | ENSP00000514552.1:n.*1450G>A | |
| ENST00000699735.1:c.*1507G>A | ENSP00000514553.1:n.*1507G>A | |
| ENST00000699736.1:n.1057G>A | ||
| ENST00000699737.1:n.5072G>A | ||
| ENST00000699738.1:c.921G>A | ENSP00000514555.1:p.Pro307= | |
| ENST00000699739.1:n.671G>A | ||
| ENST00000699740.1:n.765G>A | ||
| ENST00000699741.1:n.563+3869G>A | ||
| ENST00000699742.1:c.1533G>A | ENSP00000514714.1:p.Pro511= | |
| ENST00000397821.8:c.1764G>A MANE Select | ENSP00000380921.3:p.Pro588= | |
| ENST00000379698.8:c.1653G>A | ENSP00000369020.4:p.Pro551= | |
| ENST00000379716.5:c.1050G>A | ENSP00000369039.1:p.Pro350= | |
| ENST00000379726.7:c.1704G>A | ENSP00000369049.3:p.Pro568= | |
| ENST00000397821.7:c.1764G>A | ENSP00000380921.3:p.Pro588= | |
| NM_001024666.2:c.1653G>A | NP_001019837.1:p.Pro551= | |
| NM_001184960.1:c.1050G>A | NP_001171889.1:p.Pro350= | |
| NM_031892.2:c.1764G>A | NP_114098.1:p.Pro588= | |
| XM_005274494.1:c.1839G>A | XP_005274551.1:p.Pro613= | |
| XM_011545498.1:c.1896G>A | XP_011543800.1:p.Pro632= | |
| XM_011545499.1:c.1785G>A | XP_011543801.1:p.Pro595= | |
| XM_011545500.1:c.1767G>A | XP_011543802.1:p.Pro589= | |
| XM_011545502.1:c.1101G>A | XP_011543804.1:p.Pro367= | |
| NM_001353890.1:c.1635G>A | NP_001340819.1:p.Pro545= | |
| NM_001353891.1:c.1839G>A | NP_001340820.1:p.Pro613= | |
| NM_001353892.1:c.1710G>A | NP_001340821.1:p.Pro570= | |
| NM_001353893.1:c.1662G>A | NP_001340822.1:p.Pro554= | |
| NM_001353894.1:c.1533G>A | NP_001340823.1:p.Pro511= | |
| NM_001353895.1:c.1590G>A | NP_001340824.1:p.Pro530= | |
| NM_001353897.1:c.921G>A | NP_001340826.1:p.Pro307= | |
| XM_011545498.3:c.1896G>A | XP_011543800.1:p.Pro632= | |
| XM_011545499.3:c.1785G>A | XP_011543801.1:p.Pro595= | |
| XM_011545500.3:c.1767G>A | XP_011543802.1:p.Pro589= | |
| XM_011545502.2:c.1101G>A | XP_011543804.1:p.Pro367= | |
| XM_017029460.1:c.1773G>A | XP_016884949.1:p.Pro591= | |
| XM_017029461.1:c.1716G>A | XP_016884950.1:p.Pro572= | |
| XM_017029464.2:c.1644G>A | XP_016884953.1:p.Pro548= | |
| XM_017029465.2:c.1641G>A | XP_016884954.1:p.Pro547= | |
| XM_017029467.2:c.1587G>A | XP_016884956.1:p.Pro529= | |
| XM_017029468.2:c.1512G>A | XP_016884957.1:p.Pro504= | |
| XM_017029469.1:c.981G>A | XP_016884958.1:p.Pro327= | |
| NM_031892.3:c.1764G>A MANE Select | NP_114098.1:p.Pro588= | |
| NM_001024666.3:c.1653G>A | NP_001019837.1:p.Pro551= | |
| NM_001184960.2:c.1050G>A | NP_001171889.1:p.Pro350= | |
| NM_001353890.2:c.1635G>A | NP_001340819.1:p.Pro545= | |
| NM_001353891.2:c.1839G>A | NP_001340820.1:p.Pro613= | |
| NM_001353892.2:c.1710G>A | NP_001340821.1:p.Pro570= | |
| NM_001353897.2:c.921G>A | NP_001340826.1:p.Pro307= | |
| NM_001353893.2:c.1662G>A | NP_001340822.1:p.Pro554= | |
| NM_001353894.2:c.1533G>A | NP_001340823.1:p.Pro511= | |
| NM_001353895.2:c.1590G>A | NP_001340824.1:p.Pro530= |