Linked Data
ClinVar Variation Id:
1415130
ClinVar RCV Id:
RCV001945472
dbSNP Id:
rs767654497
ExAC:
X:19560215 G / T
gnomAD v2:
X-19560215-G-T
gnomAD v3:
X-19542097-G-T
gnomAD v4:
X-19542097-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19542097G>T , CM000685.2:g.19542097G>T | GRCh38 |
| NC_000023.10:g.19560215G>T , CM000685.1:g.19560215G>T | GRCh37 |
| NC_000023.9:g.19470136G>T | NCBI36 |
| NG_021367.1:g.350530C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379726.8:c.1852C>A | ENSP00000369049.4:p.Leu618Met | |
| ENST00000494961.6:c.*1049C>A | ENSP00000514518.1:n.*1049C>A | |
| ENST00000699666.1:c.*432C>A | ENSP00000514509.1:n.*432C>A | |
| ENST00000699667.1:c.*1238C>A | ENSP00000514510.1:n.*1238C>A | |
| ENST00000699668.1:c.1795C>A | ENSP00000514511.1:p.Leu599Met | |
| ENST00000699669.1:c.*1130C>A | ENSP00000514512.1:n.*1130C>A | |
| ENST00000699670.1:c.1723C>A | ENSP00000514513.1:p.Leu575Met | |
| ENST00000699671.1:c.1666C>A | ENSP00000514514.1:p.Leu556Met | |
| ENST00000699672.1:c.*1331C>A | ENSP00000514515.1:n.*1331C>A | |
| ENST00000699673.1:c.1591C>A | ENSP00000514516.1:p.Leu531Met | |
| ENST00000699674.1:c.1489C>A | ENSP00000514517.1:p.Leu497Met | |
| ENST00000699675.1:c.*1435C>A | ENSP00000514519.1:n.*1435C>A | |
| ENST00000699676.1:c.1627-4317C>A | ENSP00000514520.1:n.1627-4317C>A | |
| ENST00000699677.1:n.9601C>A | ||
| ENST00000699678.1:c.*755C>A | ENSP00000514521.1:n.*755C>A | |
| ENST00000699679.1:c.1795C>A | ENSP00000514522.1:p.Leu599Met | |
| ENST00000699720.1:c.1546C>A | ENSP00000514710.1:p.Leu516Met | |
| ENST00000699721.1:c.1057C>A | ENSP00000514544.1:p.Leu353Met | |
| ENST00000699722.1:n.1648C>A | ||
| ENST00000699723.1:c.1609C>A | ENSP00000514545.1:p.Leu537Met | |
| ENST00000699724.1:c.*1643C>A | ENSP00000514546.1:n.*1643C>A | |
| ENST00000699725.1:c.1675C>A | ENSP00000514547.1:p.Leu559Met | |
| ENST00000699726.1:c.1618C>A | ENSP00000514711.1:p.Leu540Met | |
| ENST00000699727.1:c.*1592C>A | ENSP00000514548.1:n.*1592C>A | |
| ENST00000699728.1:n.1639C>A | ||
| ENST00000699729.1:c.1414C>A | ENSP00000514549.1:p.Leu472Met | |
| ENST00000699730.1:c.*1571C>A | ENSP00000514550.1:n.*1571C>A | |
| ENST00000699731.1:c.1396C>A | ENSP00000514551.1:p.Leu466Met | |
| ENST00000699732.1:c.1489C>A | ENSP00000514712.1:p.Leu497Met | |
| ENST00000699733.1:c.1489C>A | ENSP00000514713.1:p.Leu497Met | |
| ENST00000699734.1:c.*1406C>A | ENSP00000514552.1:n.*1406C>A | |
| ENST00000699735.1:c.*1463C>A | ENSP00000514553.1:n.*1463C>A | |
| ENST00000699736.1:n.1013C>A | ||
| ENST00000699737.1:n.5028C>A | ||
| ENST00000699738.1:c.877C>A | ENSP00000514555.1:p.Leu293Met | |
| ENST00000699739.1:n.627C>A | ||
| ENST00000699740.1:n.721C>A | ||
| ENST00000699741.1:n.563+3825C>A | ||
| ENST00000699742.1:c.1489C>A | ENSP00000514714.1:p.Leu497Met | |
| ENST00000397821.8:c.1720C>A MANE Select | ENSP00000380921.3:p.Leu574Met | |
| ENST00000379698.8:c.1609C>A | ENSP00000369020.4:p.Leu537Met | |
| ENST00000379716.5:c.1006C>A | ENSP00000369039.1:p.Leu336Met | |
| ENST00000379726.7:c.1660C>A | ENSP00000369049.3:p.Leu554Met | |
| ENST00000397821.7:c.1720C>A | ENSP00000380921.3:p.Leu574Met | |
| NM_001024666.2:c.1609C>A | NP_001019837.1:p.Leu537Met | |
| NM_001184960.1:c.1006C>A | NP_001171889.1:p.Leu336Met | |
| NM_031892.2:c.1720C>A | NP_114098.1:p.Leu574Met | |
| XM_005274494.1:c.1795C>A | XP_005274551.1:p.Leu599Met | |
| XM_011545498.1:c.1852C>A | XP_011543800.1:p.Leu618Met | |
| XM_011545499.1:c.1741C>A | XP_011543801.1:p.Leu581Met | |
| XM_011545500.1:c.1723C>A | XP_011543802.1:p.Leu575Met | |
| XM_011545502.1:c.1057C>A | XP_011543804.1:p.Leu353Met | |
| NM_001353890.1:c.1591C>A | NP_001340819.1:p.Leu531Met | |
| NM_001353891.1:c.1795C>A | NP_001340820.1:p.Leu599Met | |
| NM_001353892.1:c.1666C>A | NP_001340821.1:p.Leu556Met | |
| NM_001353893.1:c.1618C>A | NP_001340822.1:p.Leu540Met | |
| NM_001353894.1:c.1489C>A | NP_001340823.1:p.Leu497Met | |
| NM_001353895.1:c.1546C>A | NP_001340824.1:p.Leu516Met | |
| NM_001353897.1:c.877C>A | NP_001340826.1:p.Leu293Met | |
| XM_011545498.3:c.1852C>A | XP_011543800.1:p.Leu618Met | |
| XM_011545499.3:c.1741C>A | XP_011543801.1:p.Leu581Met | |
| XM_011545500.3:c.1723C>A | XP_011543802.1:p.Leu575Met | |
| XM_011545502.2:c.1057C>A | XP_011543804.1:p.Leu353Met | |
| XM_017029460.1:c.1729C>A | XP_016884949.1:p.Leu577Met | |
| XM_017029461.1:c.1672C>A | XP_016884950.1:p.Leu558Met | |
| XM_017029464.2:c.1600C>A | XP_016884953.1:p.Leu534Met | |
| XM_017029465.2:c.1597C>A | XP_016884954.1:p.Leu533Met | |
| XM_017029467.2:c.1543C>A | XP_016884956.1:p.Leu515Met | |
| XM_017029468.2:c.1468C>A | XP_016884957.1:p.Leu490Met | |
| XM_017029469.1:c.937C>A | XP_016884958.1:p.Leu313Met | |
| NM_031892.3:c.1720C>A MANE Select | NP_114098.1:p.Leu574Met | |
| NM_001024666.3:c.1609C>A | NP_001019837.1:p.Leu537Met | |
| NM_001184960.2:c.1006C>A | NP_001171889.1:p.Leu336Met | |
| NM_001353890.2:c.1591C>A | NP_001340819.1:p.Leu531Met | |
| NM_001353891.2:c.1795C>A | NP_001340820.1:p.Leu599Met | |
| NM_001353892.2:c.1666C>A | NP_001340821.1:p.Leu556Met | |
| NM_001353897.2:c.877C>A | NP_001340826.1:p.Leu293Met | |
| NM_001353893.2:c.1618C>A | NP_001340822.1:p.Leu540Met | |
| NM_001353894.2:c.1489C>A | NP_001340823.1:p.Leu497Met | |
| NM_001353895.2:c.1546C>A | NP_001340824.1:p.Leu516Met |