Linked Data
ClinVar Variation Id:
1596336
ClinVar RCV Id:
RCV002126947
dbSNP Id:
rs369907952
ExAC:
X:13776535 A / T
gnomAD v2:
X-13776535-A-T
gnomAD v3:
X-13758416-A-T
gnomAD v4:
X-13758416-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13758416A>T , CM000685.2:g.13758416A>T | GRCh38 |
| NC_000023.10:g.13776535A>T , CM000685.1:g.13776535A>T | GRCh37 |
| NC_000023.9:g.13686456A>T | NCBI36 |
| NG_008872.1:g.28704A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*1315A>T | ENSP00000369941.2:n.*1315A>T | |
| ENST00000398395.8:c.*1115+626A>T | ENSP00000381432.5:n.*1115+626A>T | |
| ENST00000464463.6:n.1785A>T | ||
| ENST00000490265.6:n.2151A>T | ||
| ENST00000682237.1:c.*1182A>T | ENSP00000507121.1:n.*1182A>T | |
| ENST00000682562.1:c.*3024A>T | ENSP00000507874.1:n.*3024A>T | |
| ENST00000682953.1:c.*2349A>T | ENSP00000507878.1:n.*2349A>T | |
| ENST00000683055.1:c.*937A>T | ENSP00000508191.1:n.*937A>T | |
| ENST00000683284.1:c.*1853A>T | ENSP00000507837.1:n.*1853A>T | |
| ENST00000683427.1:c.*311+626A>T | ENSP00000507290.1:n.*311+626A>T | |
| ENST00000683454.1:n.1636A>T | ||
| ENST00000683637.1:n.2731A>T | ||
| ENST00000683655.1:c.*1836A>T | ENSP00000506770.1:n.*1836A>T | |
| ENST00000683713.1:c.*1853A>T | ENSP00000507797.1:n.*1853A>T | |
| ENST00000684577.1:c.*1319A>T | ENSP00000507871.1:n.*1319A>T | |
| ENST00000340096.11:c.1622A>T MANE Select | ENSP00000344314.6:p.Asp541Val | |
| ENST00000340096.10:c.1622A>T | ENSP00000344314.6:p.Asp541Val | |
| ENST00000380550.6:c.1502A>T | ENSP00000369923.3:p.Asp501Val | |
| ENST00000380567.5:c.1202A>T | ENSP00000369941.1:p.Asp401Val | |
| ENST00000398395.7:c.1011+626A>T | ENSP00000381432.4:n.1011+626A>T | |
| ENST00000490265.5:n.2597A>T | ||
| NM_003611.2:c.1622A>T | NP_003602.1:p.Asp541Val | |
| XM_005274599.2:c.1643A>T | XP_005274656.1:p.Asp548Val | |
| XM_005274602.2:c.1643A>T | XP_005274659.1:p.Asp548Val | |
| XM_005274603.2:c.1523A>T | XP_005274660.1:p.Asp508Val | |
| XM_005274604.2:c.1502A>T | XP_005274661.1:p.Asp501Val | |
| XM_005274606.2:c.1478A>T | XP_005274663.1:p.Asp493Val | |
| XM_005274607.3:c.1202A>T | XP_005274664.1:p.Asp401Val | |
| XM_011545591.1:c.1643A>T | XP_011543893.1:p.Asp548Val | |
| XM_011545592.1:c.1430A>T | XP_011543894.1:p.Asp477Val | |
| XM_011545593.1:c.1643A>T | XP_011543895.1:p.Asp548Val | |
| XM_011545594.1:c.1301A>T | XP_011543896.1:p.Asp434Val | |
| XM_011545595.1:c.1301A>T | XP_011543897.1:p.Asp434Val | |
| XM_011545596.1:c.1643A>T | XP_011543898.1:p.Asp548Val | |
| XM_011545597.1:c.1202A>T | XP_011543899.1:p.Asp401Val | |
| XM_011545598.1:c.347A>T | XP_011543900.1:p.Asp116Val | |
| XR_247288.2:n.1982A>T | ||
| NM_001330209.1:c.1502A>T | NP_001317138.1:p.Asp501Val | |
| NM_001330210.1:c.1202A>T | NP_001317139.1:p.Asp401Val | |
| XM_005274606.4:c.1478A>T | XP_005274663.1:p.Asp493Val | |
| XM_011545592.3:c.1430A>T | XP_011543894.1:p.Asp477Val | |
| XM_011545594.3:c.1301A>T | XP_011543896.1:p.Asp434Val | |
| XM_011545597.2:c.1202A>T | XP_011543899.1:p.Asp401Val | |
| XM_017029909.1:c.1202A>T | XP_016885398.1:p.Asp401Val | |
| XM_017029911.1:c.680A>T | XP_016885400.1:p.Asp227Val | |
| XM_024452468.1:c.347A>T | XP_024308236.1:p.Asp116Val | |
| XM_024452469.1:c.347A>T | XP_024308237.1:p.Asp116Val | |
| XM_024452470.1:c.347A>T | XP_024308238.1:p.Asp116Val | |
| XM_024452471.1:c.347A>T | XP_024308239.1:p.Asp116Val | |
| NM_003611.3:c.1622A>T MANE Select | NP_003602.1:p.Asp541Val | |
| NM_001330209.2:c.1502A>T | NP_001317138.1:p.Asp501Val | |
| NM_001330210.2:c.1202A>T | NP_001317139.1:p.Asp401Val |