Linked Data
ClinVar Variation Id:
1551523
ClinVar RCV Id:
RCV002177961
dbSNP Id:
rs761536120
ExAC:
X:19554565 G / A
gnomAD v2:
X-19554565-G-A
gnomAD v3:
X-19536447-G-A
gnomAD v4:
X-19536447-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19536447G>A , CM000685.2:g.19536447G>A | GRCh38 |
| NC_000023.10:g.19554565G>A , CM000685.1:g.19554565G>A | GRCh37 |
| NC_000023.9:g.19464486G>A | NCBI36 |
| NG_021367.1:g.356180C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379726.8:c.2100C>T | ENSP00000369049.4:p.Asn700= | |
| ENST00000494961.6:c.*1297C>T | ENSP00000514518.1:n.*1297C>T | |
| ENST00000699666.1:c.*680C>T | ENSP00000514509.1:n.*680C>T | |
| ENST00000699667.1:c.*1486C>T | ENSP00000514510.1:n.*1486C>T | |
| ENST00000699668.1:c.2043C>T | ENSP00000514511.1:p.Asn681= | |
| ENST00000699669.1:c.*1378C>T | ENSP00000514512.1:n.*1378C>T | |
| ENST00000699670.1:c.1971C>T | ENSP00000514513.1:p.Asn657= | |
| ENST00000699671.1:c.1914C>T | ENSP00000514514.1:p.Asn638= | |
| ENST00000699672.1:c.*1579C>T | ENSP00000514515.1:n.*1579C>T | |
| ENST00000699673.1:c.1839C>T | ENSP00000514516.1:p.Asn613= | |
| ENST00000699674.1:c.1737C>T | ENSP00000514517.1:p.Asn579= | |
| ENST00000699675.1:c.*1683C>T | ENSP00000514519.1:n.*1683C>T | |
| ENST00000699676.1:c.*64C>T | ENSP00000514520.1:n.*64C>T | |
| ENST00000699677.1:n.9849C>T | ||
| ENST00000699678.1:c.*1003C>T | ENSP00000514521.1:n.*1003C>T | |
| ENST00000699679.1:c.*2C>T | ENSP00000514522.1:n.*2C>T | |
| ENST00000699720.1:c.1794C>T | ENSP00000514710.1:p.Asn598= | |
| ENST00000699721.1:c.1305C>T | ENSP00000514544.1:p.Asn435= | |
| ENST00000699722.1:n.1896C>T | ||
| ENST00000699723.1:c.1857C>T | ENSP00000514545.1:p.Asn619= | |
| ENST00000699724.1:c.*1891C>T | ENSP00000514546.1:n.*1891C>T | |
| ENST00000699725.1:c.1923C>T | ENSP00000514547.1:p.Asn641= | |
| ENST00000699726.1:c.1866C>T | ENSP00000514711.1:p.Asn622= | |
| ENST00000699727.1:c.*1840C>T | ENSP00000514548.1:n.*1840C>T | |
| ENST00000699728.1:n.1887C>T | ||
| ENST00000699729.1:c.1662C>T | ENSP00000514549.1:p.Asn554= | |
| ENST00000699730.1:c.*1819C>T | ENSP00000514550.1:n.*1819C>T | |
| ENST00000699731.1:c.1644C>T | ENSP00000514551.1:p.Asn548= | |
| ENST00000699732.1:c.1737C>T | ENSP00000514712.1:p.Asn579= | |
| ENST00000699733.1:c.1737C>T | ENSP00000514713.1:p.Asn579= | |
| ENST00000699734.1:c.*1654C>T | ENSP00000514552.1:n.*1654C>T | |
| ENST00000699735.1:c.*1711C>T | ENSP00000514553.1:n.*1711C>T | |
| ENST00000699736.1:n.1261C>T | ||
| ENST00000699737.1:n.5276C>T | ||
| ENST00000699738.1:c.1125C>T | ENSP00000514555.1:p.Asn375= | |
| ENST00000699739.1:n.875C>T | ||
| ENST00000699740.1:n.969C>T | ||
| ENST00000699741.1:n.639C>T | ||
| ENST00000699742.1:c.*2C>T | ENSP00000514714.1:n.*2C>T | |
| ENST00000397821.8:c.1968C>T MANE Select | ENSP00000380921.3:p.Asn656= | |
| ENST00000379698.8:c.1857C>T | ENSP00000369020.4:p.Asn619= | |
| ENST00000379716.5:c.1254C>T | ENSP00000369039.1:p.Asn418= | |
| ENST00000379726.7:c.1908C>T | ENSP00000369049.3:p.Asn636= | |
| ENST00000397821.7:c.1968C>T | ENSP00000380921.3:p.Asn656= | |
| NM_001024666.2:c.1857C>T | NP_001019837.1:p.Asn619= | |
| NM_001184960.1:c.1254C>T | NP_001171889.1:p.Asn418= | |
| NM_031892.2:c.1968C>T | NP_114098.1:p.Asn656= | |
| XM_005274494.1:c.2043C>T | XP_005274551.1:p.Asn681= | |
| XM_011545498.1:c.2100C>T | XP_011543800.1:p.Asn700= | |
| XM_011545499.1:c.1989C>T | XP_011543801.1:p.Asn663= | |
| XM_011545500.1:c.1971C>T | XP_011543802.1:p.Asn657= | |
| XM_011545502.1:c.1305C>T | XP_011543804.1:p.Asn435= | |
| NM_001353890.1:c.1839C>T | NP_001340819.1:p.Asn613= | |
| NM_001353891.1:c.2043C>T | NP_001340820.1:p.Asn681= | |
| NM_001353892.1:c.1914C>T | NP_001340821.1:p.Asn638= | |
| NM_001353893.1:c.1866C>T | NP_001340822.1:p.Asn622= | |
| NM_001353894.1:c.1737C>T | NP_001340823.1:p.Asn579= | |
| NM_001353895.1:c.1794C>T | NP_001340824.1:p.Asn598= | |
| NM_001353897.1:c.1125C>T | NP_001340826.1:p.Asn375= | |
| XM_011545498.3:c.2100C>T | XP_011543800.1:p.Asn700= | |
| XM_011545499.3:c.1989C>T | XP_011543801.1:p.Asn663= | |
| XM_011545500.3:c.1971C>T | XP_011543802.1:p.Asn657= | |
| XM_011545502.2:c.1305C>T | XP_011543804.1:p.Asn435= | |
| XM_017029460.1:c.1977C>T | XP_016884949.1:p.Asn659= | |
| XM_017029461.1:c.1920C>T | XP_016884950.1:p.Asn640= | |
| XM_017029464.2:c.1848C>T | XP_016884953.1:p.Asn616= | |
| XM_017029465.2:c.1845C>T | XP_016884954.1:p.Asn615= | |
| XM_017029467.2:c.1791C>T | XP_016884956.1:p.Asn597= | |
| XM_017029468.2:c.1716C>T | XP_016884957.1:p.Asn572= | |
| XM_017029469.1:c.1185C>T | XP_016884958.1:p.Asn395= | |
| NM_031892.3:c.1968C>T MANE Select | NP_114098.1:p.Asn656= | |
| NM_001024666.3:c.1857C>T | NP_001019837.1:p.Asn619= | |
| NM_001184960.2:c.1254C>T | NP_001171889.1:p.Asn418= | |
| NM_001353890.2:c.1839C>T | NP_001340819.1:p.Asn613= | |
| NM_001353891.2:c.2043C>T | NP_001340820.1:p.Asn681= | |
| NM_001353892.2:c.1914C>T | NP_001340821.1:p.Asn638= | |
| NM_001353897.2:c.1125C>T | NP_001340826.1:p.Asn375= | |
| NM_001353893.2:c.1866C>T | NP_001340822.1:p.Asn622= | |
| NM_001353894.2:c.1737C>T | NP_001340823.1:p.Asn579= | |
| NM_001353895.2:c.1794C>T | NP_001340824.1:p.Asn598= |